Gene Summary

Name:
MAGE family member D1
Synonyms:
2810433C11Rik,  Dlxin-1,  DXBwg1492e,  5430405L04Rik,  Nrage,  MAGE-D1

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased heart rate Maged1em1(IMPC)Mbp HOM   Early adult 2.40×10-11
prolonged RR interval Maged1em1(IMPC)Mbp HEM   Early adult 4.93×10-08
hypoactivity Maged1em1(IMPC)Mbp HOM   Early adult 2.93×10-12
decreased exploration in new environment Maged1em1(IMPC)Mbp HOM   Early adult 3.33×10-06
increased freezing behavior Maged1em1(IMPC)Mbp HOM   Early adult 1.67×10-09
hypoactivity Maged1em1(IMPC)Mbp HEM   Early adult 9.15×10-06
prolonged RR interval Maged1em1(IMPC)Mbp HOM   Early adult 1.77×10-15
decreased heart rate Maged1em1(IMPC)Mbp HEM   Early adult 2.72×10-07

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Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

Human diseases caused by Maged1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Maged1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Hyperactivity, Bradycardia, Attention deficit hyperactivity diso... OMIM:617182
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation OMIM:617280
Sinoatrial Node Dysfunction And Deafness
Bradycardia OMIM:614896
Early-Onset Schizophrenia
Low self esteem, Shyness, Depression, Abnormal emotion/affect behavior, Impairment in personality... ORPHA:96369
Cardiac Conduction Defect
Arrhythmia, Syncope OMIM:115080
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Syncope, Bradycardia, Ventricular tachycardia OMIM:611938
Long Qt Syndrome 15
Ventricular fibrillation, Prolonged QT interval, Cardiac arrest, Bradycardia, Prolonged QTc interval OMIM:616249
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Arrhythmia ORPHA:3193
Familial Alzheimer-Like Prion Disease
Deficit in phonologic short-term memory, Depression, Emotional lability, Anxiety, Cognitive impai... ORPHA:280397
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Cardiomyopathy, Familial Hypertrophic, 11
Arrhythmia, Hypertrophic cardiomyopathy OMIM:612098
Severe Primary Trimethylaminuria
Negative affectivity, Low self esteem, Aggressive behavior, Depression, Emotional lability, Anxiety ORPHA:468726
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Arrhythmia OMIM:212500
Autism, Susceptibility To, 20
Impaired social interactions, Attention deficit hyperactivity disorder OMIM:618830
Familial Short Qt Syndrome
Ventricular arrhythmia, Palpitations, Shortened QT interval, Atrial fibrillation, Sudden cardiac ... ORPHA:51083
Short Qt Syndrome 2
Shortened QT interval, Atrial fibrillation, Sudden cardiac death, Ventricular fibrillation, Brady... OMIM:609621
Progressive Familial Heart Block, Type Ib
Arrhythmia, Atrioventricular block, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
His Bundle Tachycardia
Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy ORPHA:3283
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, Bradycardia, T-wave alternans OMIM:618782
Cardiac Arrhythmia, Ankyrin-B-Related
Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Prolonged QT interval, Syncope OMIM:600919
Intellectual Developmental Disorder With Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617173
Long Qt Syndrome 9
Ventricular arrhythmia, Prolonged QT interval, Sinus bradycardia, Cardiac arrest OMIM:611818
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Complete heart block with narrow QRS complexes, Atrioventricular block, Sin... OMIM:140400
Mental Retardation, Autosomal Recessive 66
Gait ataxia, Shyness, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:618221
Sick Sinus Syndrome 1
Sick sinus syndrome, Ventricular escape rhythm, Atrioventricular block, Absent P wave, Sinus brad... OMIM:608567
Long Qt Syndrome 14
Atrioventricular block, Ventricular fibrillation, Sinus bradycardia, Prolonged QT interval, Cardi... OMIM:616247
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Paroxysmal supraventricular tachycardia, Atrial flutter, Ventricular extrasystoles, Atrial fibril... OMIM:616117
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Sick sinus syndrome, Atrial fibrillation, Pulmonic stenosis, Mitral regurgitation... OMIM:616201
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular arrhythmia, Prolonged QRS complex, T-wave inversion, Ventricular tachycardia, Right v... OMIM:611528
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Arrhythmia, Atrial fibrillation, Bradycardia OMIM:614302
Brugada Syndrome
Ventricular arrhythmia, Sick sinus syndrome, Ventricular fibrillation, Supraventricular tachycard... ORPHA:130
Catecholaminergic Polymorphic Ventricular Tachycardia
Sudden cardiac death, Syncope, Ventricular tachycardia ORPHA:3286
Ventricular Fibrillation, Paroxysmal Familial, 1
Ventricular fibrillation, Tachycardia, Syncope OMIM:603829
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Abnormal left ventricular function, Atrial fibrillation, Ventricular tachycard... OMIM:604772
Atrial Standstill
Palpitations, Reduced ejection fraction, Arrhythmia, Ischemic stroke, Cardiac conduction abnormal... ORPHA:1344
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Syncope, Prolonged QT interval, Ventricular tachycardia OMIM:614021
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Syncope, Cardiac arrest, Ventricular tachycardia OMIM:614916
Ventricular Tachycardia, Familial
Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia OMIM:192605
Incessant Infant Ventricular Tachycardia
Bundle branch block, Prolonged QRS complex, Wolff-Parkinson-White syndrome, Ventricular tachycard... ORPHA:45453
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Pulmonary embolism, Atrioventr... OMIM:613485
Mental Retardation, Autosomal Recessive 25
Anxiety OMIM:614346
Panic Disorder 1
Anxiety OMIM:167870
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Palpitations, Prolonged QRS complex, Ventricular extrasystoles, Ventricular tachycardia, Sudden c... OMIM:604400
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Cardiomyopathy, Ventricular tachycardia OMIM:612124
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Ventricular arrhythmia, Sudden cardiac death, Right ventricular cardiomyopathy OMIM:107970
Cardiomyopathy, Familial Hypertrophic, 6
Asymmetric septal hypertrophy, Ventricular preexcitation, Wolff-Parkinson-White syndrome, Atrial ... OMIM:600858
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Inertia, Dementia, Apathy, Frontotemporal dementia, Bradykinesia, Motor deterioration, Falls, Anx... ORPHA:412066
Episodic Pain Syndrome, Familial, 3
Abnormal autonomic nervous system physiology OMIM:615552
Atrial Fibrillation, Familial, 1
Tachycardia, Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 3
Tachycardia, Atrial fibrillation OMIM:607554
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Right ven... OMIM:610193
Brugada Syndrome 9
Palpitations, Presyncope, ST segment elevation OMIM:616399
Brugada Syndrome 1
Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria... OMIM:601144
Romano-Ward Syndrome
Ventricular arrhythmia, Torsade de pointes, Abnormal cardiac exercise stress test, Sudden cardiac... ORPHA:101016
Heart-Hand Syndrome, Slovenian Type
Arrhythmia, Abnormal electrophysiology of sinoatrial node origin, Supraventricular arrhythmia, Ab... ORPHA:168796
Cardiomyopathy, Dilated, 1O
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia OMIM:608569
Short Qt Syndrome 3
Shortened QT interval, Palpitations, Tachycardia OMIM:609622
Dystonia 23
Arrhythmia, Axial dystonia, Gait disturbance, Writer's cramp, Torticollis, Limb dystonia OMIM:614860
Long Qt Syndrome 10
Atrial fibrillation, Sudden cardiac death, Atrioventricular block, Prolonged QT interval, T-wave ... OMIM:611819
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Reduced ejection fraction, Atrial fibrillation, Ventricular tachyc... OMIM:604145
Sudden Cardiac Failure, Infantile
Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Myocarditis OMIM:617222
Myoclonus-Dystonia Syndrome
Personality disorder, Dystonia, Depression, Writer's cramp, Panic attack, Torticollis, Anxiety ORPHA:36899
Atrial Fibrillation, Familial, 4
Palpitations, Premature atrial contractions, Paroxysmal atrial fibrillation, Atrial fibrillation,... OMIM:611493
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Ventricular extrasystoles, Ventricular tachycardia, Cardiac arrest, Shock, Polymorphic ventricula... OMIM:615441
Orthostatic Intolerance
Orthostatic tachycardia OMIM:604715
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Bradycar... OMIM:601419
Cardiomyopathy, Dilated, 1E
Palpitations, Premature atrial contractions, Atrial standstill, Atrial flutter, Ventricular extra... OMIM:601154
Epilepsy, Progressive Myoclonic, 12
Depression, Difficulty walking, Ataxia, Anxiety, Dysmetria, Mental deterioration, Attention defic... OMIM:619191
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Ventricular fibrillatio... OMIM:607450
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function OMIM:609909
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Jervell And Lange-Nielsen Syndrome 1
Sudden cardiac death, Prolonged QT interval, Torsade de pointes, Syncope OMIM:220400
Long Qt Syndrome 2
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613688
Long Qt Syndrome 6
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613693
Long Qt Syndrome 5
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613695
Long Qt Syndrome 3
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:603830
Tako-Tsubo Cardiomyopathy
Ventricular arrhythmia, Prolonged QTc interval, Syncope, Cardiogenic shock, Decreased QRS voltage... ORPHA:66529
Brugada Syndrome 3
Ventricular arrhythmia, Shortened QT interval, J wave, Atrial fibrillation, Sudden cardiac death,... OMIM:611875
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Short Qt Syndrome 1
Palpitations, Paroxysmal atrial fibrillation, Shortened QT interval, Sudden cardiac death, Cardia... OMIM:609620
Dysautonomia-Like Disorder
Abnormal autonomic nervous system physiology OMIM:224000
Long Qt Syndrome 11
Prolonged QT interval, Syncope OMIM:611820
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Bundle branch block, Ventricular tachycardia OMIM:615616
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior, Hyperactivity ORPHA:436151
Long Qt Syndrome 1
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:192500
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Dystonia 11, Myoclonic
Depression, Agoraphobia, Writer's cramp, Torticollis, Anxiety OMIM:159900
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Dystonia, Bradycardia OMIM:616299
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Arrhythmia, Bundle branch block ORPHA:1479
Chorea, Benign Hereditary
Gait disturbance, Anxiety OMIM:118700
Wolff-Parkinson-White Syndrome
Palpitations, Prolonged QRS complex, Paroxysmal supraventricular tachycardia, Wolff-Parkinson-Whi... OMIM:194200
Atrial Standstill 1
Premature atrial contractions, Atrial standstill, Atrial cardiomyopathy, Paroxysmal atrial fibril... OMIM:108770
Atrial Standstill 2
Palpitations, Atrial standstill, Atrial cardiomyopathy, Atrial arrhythmia, Absent P wave, Bradyca... OMIM:615745
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Dystonia, Depression, Ataxia, Anxiety, Inappropriate behavior, Cognitive impairment, Memory impai... ORPHA:401901
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Left bundle branch block, Presy... OMIM:618920
Sick Sinus Syndrome 2
Aortic regurgitation, Sick sinus syndrome, Atrial fibrillation, Ventricular fibrillation, Sinus b... OMIM:163800
Coenzyme Q10 Deficiency, Primary, 7
Bradycardia, Hypertrophic cardiomyopathy OMIM:616276
Brugada Syndrome 6
Ventricular fibrillation, Cardiac arrest, ST segment elevation OMIM:613119
Trimethylaminuria
Tachycardia, Hypertension, Depression OMIM:602079
Coenzyme Q10 Deficiency, Primary, 5
Dystonia, Bradycardia OMIM:614654
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Ventricular arrhythmia, Palpitations, Sudden cardiac death, Right ventricular cardiomyopathy, Syn... OMIM:610476
Congenital Heart Defects, Multiple Types, 3
Atrial fibrillation, Atrioventricular block, Tachycardia, Atrioventricular dissociation, Right bu... OMIM:614954
Carnitine-Acylcarnitine Translocase Deficiency
Lethargy, Hypotension, Ventricular extrasystoles, Ventricular tachycardia, Atrioventricular block... OMIM:212138
Dystonia 12
Dystonia, Depression, Bradykinesia, Emotional lability, Torticollis, Unsteady gait, Anxiety OMIM:128235
Huntington Disease-Like 2
Dystonia, Dementia, Depression, Apathy, Bradykinesia, Irritability, Anxiety OMIM:606438
Epilepsy, Familial Focal, With Variable Foci 4
Abnormal autonomic nervous system physiology OMIM:617935
Long Qt Syndrome 12
Ventricular fibrillation, Prolonged QTc interval, Torsade de pointes, Syncope OMIM:612955
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Arrhythmia, Paroxysmal supraventricular tachycardia, Abnormal left ven... ORPHA:45452
Ventricular Arrythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Polymorphic and polytopic ventricular extrasystoles, Sudden cardiac death, Ventricular fibrillati... OMIM:115000
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Ventricular tachycardia OMIM:611878
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Asymmetric septal hypertrophy, Atrial fibrillation, Ventricular tachyca... OMIM:613838
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Impaired social interactions, No social interaction, Hyperinsulinemia, Aggressive behavior ORPHA:329249
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Palpitations, Prolonged PR interval, Prolonged QTc interval OMIM:612240
Jervell And Lange-Nielsen Syndrome 2
Sudden cardiac death, Prolonged QT interval, Torsade de pointes, Syncope OMIM:612347
Familial Progressive Cardiac Conduction Defect
Arrhythmia, Bundle branch block, Congestive heart failure, Heart block, Syncope ORPHA:871
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Arrhythmia, Dementia, Depression, Gait disturbance, Bradycardia, Cardiomyopathy OMIM:609286
Pandas
Claustrophobia, Depression, Agoraphobia, Emotional lability, Separation insecurity, Impulsivity, ... ORPHA:66624
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Dementia, Depression, Bradykinesia, Anxiety OMIM:605909
Cardiomyopathy, Familial Hypertrophic, 10
Palpitations, Asymmetric septal hypertrophy, T-wave inversion, Ventricular tachycardia, Sudden ca... OMIM:608758
3-Methylglutaconic Aciduria, Type Viii
Dystonia, Bradycardia OMIM:617248
Cardiomyopathy, Dilated, 1B
Ventricular arrhythmia, Impaired myocardial contractility, Congestive heart failure, Dilated card... OMIM:600884
Brugada Syndrome 7
Atrial flutter, ST segment elevation OMIM:613120
Childhood Disintegrative Disorder
Impaired social interactions, Dementia, Abnormal emotion/affect behavior, Social and occupational... ORPHA:168782
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Palpitations, Difficulty walking, Loss of ability to walk, Atrioventricular block, Sinus bradycar... OMIM:616812
Huntington Disease-Like 1
Aggressive behavior, Dementia, Depression, Unsteady gait, Anxiety, Dysmetria OMIM:603218
Glycogen Storage Disease Xv
Ventricular arrhythmia, Right bundle branch block OMIM:613507
Idiopathic Congenital Hypothyroidism
Lethargy, Bradycardia ORPHA:95717
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure OMIM:192600
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Bradycardia, Hypertrophic cardiomyopathy OMIM:618815
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Arrhythmia, Sick sinus syndrome, Ventricular escape rhythm, Prolonged PR interval, Bradycardia ORPHA:542306
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Shortened PR interval, Permanent a... OMIM:108950
Dopa-Responsive Dystonia
Inability to walk, Dystonia, Lethargy, Depression, Difficulty walking, Abnormal social behavior, ... ORPHA:255
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Sudden cardiac death, Ventricular extrasystoles, Right ventricular cardiomyopathy OMIM:604401
Coproporphyria, Hereditary
Tachycardia, Anxiety, Hypertension, Depression OMIM:121300
Brugada Syndrome 2
Sudden cardiac death, Ventricular fibrillation, Prolonged PR interval, First degree atrioventricu... OMIM:611777
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Mitral regurgitation, Ventricular arrhythmia OMIM:615916
Ventricular Fibrillation, Paroxysmal Familial, 2
Sudden cardiac death, Ventricular fibrillation, Ventricular extrasystoles OMIM:612956
Brugada Syndrome 5
Ventricular fibrillation, Bundle branch block, ST segment elevation OMIM:612838
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Cardiomyopathy, Ventricular tachycardia OMIM:613873
Nathalie Syndrome
Abnormal EKG OMIM:255990
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Bradycardia OMIM:619048
Left Ventricular Noncompaction 8
Arrhythmia, Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy,... OMIM:615373
Cardiomyopathy, Dilated, 1A
Ventricular arrhythmia, Atrial flutter, Atrial fibrillation, Congestive heart failure, Dilated ca... OMIM:115200
Infant Acute Respiratory Distress Syndrome
Hypotension, Tachycardia, Cardiac arrest, Bradycardia ORPHA:70587
Atrial Septal Defect, Sinus Venosus Type
Premature atrial contractions, Palpitations, Cardiac conduction abnormality, Supraventricular arr... ORPHA:99105
Variegate Porphyria
Tachycardia OMIM:176200
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Truncal ataxia, Atrioventricular block, Bradycardia, Dystonia OMIM:614407
Congenital Left Ventricular Aneurysm
Abnormal T-wave, Arrhythmia, Congestive heart failure, Abnormal ST segment ORPHA:1055
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, ST segment elevation, Prolonged PR interval, Hypertension OMIM:615378
Basal Ganglia Calcification, Idiopathic, 5
Dementia, Depression, Apathy, Anxiety, Cognitive impairment, Athetosis OMIM:615483
Atrial Fibrillation, Familial, 15
Atrial flutter, Atrial fibrillation OMIM:615770
Illum Syndrome
Bradycardia OMIM:208155
Brugada Syndrome 4
Shortened QT interval, Atrial fibrillation, Syncope OMIM:611876
Cardiomyopathy, Familial Hypertrophic, 8
Palpitations, Restrictive cardiomyopathy, T-wave inversion, Sudden cardiac death, Ventricular fib... OMIM:608751
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Bipolar affective disorder, Aggressive behavior, Broad-based gait, Congestive heart failure, Irri... ORPHA:3077
Adult-onset autosomal dominant leukodystrophy (ADLD)
Abnormal autonomic nervous system physiology DECIPHER:59
Cardiomyopathy, Familial Hypertrophic, 13
ST segment depression, Atrial fibrillation, Hypertrophic cardiomyopathy, Ventricular fibrillation... OMIM:613243
Wild Type Attr Amyloidosis
Arrhythmia, Orthostatic hypotension due to autonomic dysfunction, Myocardial infarction, Congesti... ORPHA:330001
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Atrioventricular block, Supraventricular tachycardia, Cardiac arrest, Dilate... OMIM:612158
Dystonia 26, Myoclonic
Depression, Blepharospasm, Laryngeal dystonia, Torticollis, Anxiety OMIM:616398
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Cardiomyopathy OMIM:309930
Atrial Fibrillation, Familial, 10
Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Atrial flutter, Tricuspid regurgit... OMIM:614022
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Hyperhidrosis, Abnormal autonomic nervous system physiology OMIM:615548
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia OMIM:614498
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Ventricular arrhythmia, Cardiac conduction abnormality, Atrial flutter, Abnormal left ventricular... ORPHA:300751
Glossopharyngeal Neuralgia
Depression, Anxiety, Jaw claudication, Bradycardia, Syncope ORPHA:221098
Sinus Node Disease And Myopia
Abnormal electrophysiology of sinoatrial node origin, Sick sinus syndrome OMIM:182190
Hydroxykynureninuria
Hypotension, Tachycardia OMIM:236800
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Bradycardia, Lethargy OMIM:617397
Dyskinesia, Familial, With Facial Myokymia
Dilated cardiomyopathy, Dystonia, Congestive heart failure, Anxiety OMIM:606703
Familial Dilated Cardiomyopathy
Ventricular arrhythmia, Palpitations, Reduced ejection fraction, Arrhythmia, Elevated pulmonary a... ORPHA:217607
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Ventricular extrasystoles, Tachycardia, Syncope OMIM:192445
Timothy Syndrome
Bradycardia, Prolonged QT interval OMIM:601005
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Congestive heart failure, Shortened PR interval, Bradycardia, Cardiomyopathy OMIM:261740
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Motor Neuropathy, Peripheral, With Dysautonomia
Hyperhidrosis, Abnormal autonomic nervous system physiology, Orthostatic hypotension, Decreased n... OMIM:252320
Adult-Onset Cervical Dystonia, Dyt23 Type
Axial dystonia, Supraventricular arrhythmia, Difficulty walking, Craniofacial dystonia, Writer's ... ORPHA:420492
Familial Thyroid Dyshormonogenesis
Lethargy, Bradycardia ORPHA:95716
Juvenile Neuronal Ceroid Lipofuscinosis
Dementia, Depression, Loss of ability to walk, Emotional lability, Motor deterioration, Tachycard... ORPHA:79264
Paragangliomas 3
Episodic paroxysmal anxiety, Palpitations, Tachycardia, Hypertension associated with pheochromocy... OMIM:605373
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Progressive neurologic deterioration, Lethargy, Tachycardia ORPHA:276608
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2
Ventricular arrhythmia, Effort-induced polymorphic ventricular tachycardia, Right ventricular car... OMIM:600996
Female Restricted Epilepsy With Intellectual Disability
Aggressive behavior, Abnormal social behavior, Impulsivity, Anxiety, Hyperactivity ORPHA:101039
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG OMIM:178650
Hyperthyroidism, Nonautoimmune
Tachycardia, Hyperactivity OMIM:609152
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Tetanus
Tachycardia, Hypertension, Bradycardia ORPHA:3299
Jervell And Lange-Nielsen Syndrome
Arrhythmia, Ventricular fibrillation, Prolonged QTc interval, Torsade de pointes, Syncope ORPHA:90647
Acquired Methemoglobinemia
Palpitations, Arrhythmia, Tachycardia, Anxiety, Syncope ORPHA:464453
Perry Syndrome
Dystonia, Disinhibition, Akinesia, Depression, Apathy, Frontotemporal dementia, Bradykinesia, Anx... OMIM:168605
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Ventricular arrhythmia, Palpitations, Sudden cardiac death, Right ventricular cardiomyopathy, Syn... OMIM:609040
Aapoaiv Amyloidosis
Cardiac conduction abnormality, Abnormal cardiac ventricular function, Atrial flutter, Atrial fib... ORPHA:439232
Necrotizing Enterocolitis
Hypotension, Lethargy, Bradycardia, Shock ORPHA:391673
Hyperinsulinism Due To Ucp2 Deficiency
Palpitations, Lethargy, Syncope, Tachycardia, Hypertrophic cardiomyopathy ORPHA:276556
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, Arrhythmia, T-wave inversion, Ventricular tachycardia, Ventricular fibrillation, ST... ORPHA:263297
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia OMIM:126320
Glutamine Deficiency, Congenital
Bradycardia OMIM:610015
Encephalitis Lethargica
Mental deterioration, Lethargy, Bradycardia ORPHA:83600
Congenitally Corrected Transposition Of The Great Arteries
Premature atrial contractions, Cardiac conduction abnormality, Supraventricular tachycardia with ... ORPHA:216694
Pulmonary Hypertension, Primary, 4
Pulmonary arterial hypertension, Increased pulmonary vascular resistance, Arrhythmia, Elevated pu... OMIM:615344
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia OMIM:221400
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia ORPHA:226313
Paragangliomas 1
Episodic paroxysmal anxiety, Palpitations, Tachycardia, Hypertension associated with pheochromocy... OMIM:168000
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Palpitations, Lethargy, Syncope, Tachycardia, Hypertrophic cardiomyopathy ORPHA:276575
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Palpitations, Tachycardia OMIM:613239
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Bradycardia OMIM:614653
Combined Oxidative Phosphorylation Defect Type 39
Leg dystonia, Loss of ability to walk, Bradycardia, Toe walking ORPHA:565624
Mitchell Syndrome
Abnormal autonomic nervous system physiology OMIM:618960
Naxos Disease
Arrhythmia, Sudden cardiac death, Congestive heart failure, Paroxysmal ventricular tachycardia, C... ORPHA:34217
Indifference To Pain, Congenital, Autosomal Recessive
Hypohidrosis, Anhidrosis, Abnormal autonomic nervous system physiology OMIM:243000
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Bradycardia, Paroxysmal supraventricular tachycardia OMIM:601375
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Palpitations, Lethargy, Syncope, Tachycardia, Hypertrophic cardiomyopathy ORPHA:276580
Fructose-1,6-Bisphosphatase Deficiency
Irritability, Tachycardia, Lethargy OMIM:229700
Parkinson Disease 7, Autosomal Recessive Early-Onset
Leg dystonia, Blepharospasm, Anxiety, Bradykinesia OMIM:606324
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Bradycardia ORPHA:40366
Peripartum Cardiomyopathy
Cardiogenic shock, Palpitations, Reduced ejection fraction, Right ventricular failure, Dilated ca... ORPHA:563
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Congestive heart failure, Ventricular tachycardia OMIM:605676
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Palpitations, Tachycardia OMIM:188580
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Bradycardia OMIM:619272
Lipodystrophy, Congenital Generalized, Type 4
Tachycardia, Atrial fibrillation, Prolonged QT interval, Bradycardia OMIM:613327
Stiff-Person Syndrome
Depression, Agoraphobia, Hypertension, Tachycardia, Anxiety OMIM:184850
Obesity Due To Sim1 Deficiency
Postural hypotension with compensatory tachycardia, Abnormal autonomic nervous system physiology ORPHA:369873
Ebstein Anomaly
Atrial standstill, Ventricular preexcitation, Atrial fibrillation, Sudden cardiac death, Right bu... OMIM:224700
Abnormal Hair, Joint Laxity, And Developmental Delay
Aggressive behavior, Tricuspid regurgitation, Impulsivity, Sinus bradycardia, Mitral regurgitation OMIM:261990
Neuroleptic Malignant Syndrome
Arrhythmia, Hypotension, Hypertensive crisis, Hypertension, Pulmonary embolism, Oculogyric crisis... ORPHA:94093
Parkinson Disease 4, Autosomal Dominant
Abnormal autonomic nervous system physiology, Orthostatic hypotension OMIM:605543
Hyperinsulinism Due To Hnf1A Deficiency
Palpitations, Lethargy, Tachycardia, Syncope ORPHA:324575
Hypothyroidism Due To Tsh Receptor Mutations
Lethargy, Bradycardia ORPHA:90673
Isolated Thyroid-Stimulating Hormone Deficiency
Lethargy, Bradycardia, Attention deficit hyperactivity disorder, Depression ORPHA:90674
Naxos Disease
Ventricular arrhythmia, Palpitations, Prolonged QRS complex, T-wave inversion, Ventricular extras... OMIM:601214
Complete Atrioventricular Septal Defect
Lethargy, Right ventricular failure, Elevated pulmonary artery pressure, Third heart sound, Abnor... ORPHA:1329
Pure Autonomic Failure
Anhidrosis, Abnormal autonomic nervous system physiology, Orthostatic hypotension ORPHA:441
Caribbean Parkinsonism
Abnormal autonomic nervous system physiology, Autonomic bladder dysfunction, Orthostatic hypotension ORPHA:97355
Pheochromocytoma--Islet Cell Tumor Syndrome
Positive regitine blocking test, Episodic hypertension, Cerebral hemorrhage, Tachycardia, Congest... OMIM:171420
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Lethargy, Ventricular tachycardia OMIM:600649
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Bradycardia, Hypertrophic cardiomyopathy OMIM:618775
Autosomal Dominant Epilepsy With Auditory Features
Abnormal autonomic nervous system physiology ORPHA:101046
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Abnormal autonomic nervous system physiology ORPHA:139578
Atrial Septal Defect, Ostium Secundum Type
Palpitations, Arrhythmia, Bundle branch block, Right ventricular failure, Supraventricular arrhyt... ORPHA:99103
Proximal Spinal Muscular Atrophy
Inability to walk, Bradycardia, Difficulty walking ORPHA:70
Early-Onset Autosomal Dominant Alzheimer Disease
Disinhibition, Dementia, Abnormal social behavior, Ataxia, Semantic dementia, Memory impairment ORPHA:1020
Cardiogenic Shock
Low pulse pressure, Right ventricular failure, Hypotension, Abnormal left ventricular function, I... ORPHA:97292
Drug-Induced Autoimmune Hemolytic Anemia
Congestive heart failure, Tachycardia ORPHA:90037
Childhood Absence Epilepsy
Low self esteem, Depression, Abnormal social behavior, Anxiety, Attention deficit hyperactivity d... ORPHA:64280
Beta-Propeller Protein-Associated Neurodegeneration
Optic atrophy, Abnormal autonomic nervous system physiology ORPHA:329284
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilated cardiomyopathy, Ventricular fibrillation, Cardiac arrest, Ventricular tachycardia OMIM:300952
Porphyria, Acute Intermittent
Tachycardia, Anxiety, Hypertension, Depression OMIM:176000
Neurodegeneration With Brain Iron Accumulation 5
Abnormal autonomic nervous system physiology OMIM:300894
16P12.1P12.3 Triplication Syndrome
Skin-picking, Nail-biting, Tachycardia, Anxiety, Hyperactivity, Attention deficit hyperactivity d... ORPHA:485405
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Aganglionic megacolon, Patent ductus arteriosus, Abnormal autonomic nervous system physiology OMIM:613870
Sepsis In Premature Infants
Hypotension, Tachycardia, Bradycardia ORPHA:90051
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Dilated cardiomyopathy, Tachycardia, Syncope OMIM:615821
Erythermalgia, Primary
Hyperhidrosis, Abnormal autonomic nervous system physiology OMIM:133020
Serotonin Syndrome
Hypotension, Hypertension, Irritability, Tachycardia, Anxiety, Mental deterioration ORPHA:43116
Tropical Endomyocardial Fibrosis
Atrial flutter, P pulmonale, Tricuspid regurgitation, Abnormal T-wave, Cardiogenic shock, Reduced... ORPHA:75565
Snakebite Envenomation
Cardiogenic shock, Intracranial hemorrhage, Hypotension, Epistaxis, Myocardial infarction, Tachyc... ORPHA:449285
Riboflavin Transporter Deficiency
Facial palsy, Abnormal cranial nerve morphology, Abnormal autonomic nervous system physiology, Op... ORPHA:97229
Wolfram Syndrome, Mitochondrial Form
Optic atrophy, Abnormal autonomic nervous system physiology OMIM:598500
Malignant Hyperthermia, Susceptibility To, 1
Hypotension, Tachycardia OMIM:145600
Bohring-Opitz Syndrome
Inability to walk, Bradycardia, Happy demeanor ORPHA:97297
Multiple System Atrophy
Autonomic erectile dysfunction, Abnormal autonomic nervous system physiology, Orthostatic hypoten... ORPHA:102
Histiocytoid Cardiomyopathy
Lethargy, Wolff-Parkinson-White syndrome, Atrial flutter, Atrial fibrillation, Ventricular tachyc... ORPHA:137675
Carnitine-Acylcarnitine Translocase Deficiency
Arrhythmia, Lethargy, Hypotension, Ventricular tachycardia, Irritability, Cardiomyopathy ORPHA:159
Attrv30M Amyloidosis
Abnormal autonomic nervous system physiology ORPHA:85447
Paragangliomas 4
Episodic paroxysmal anxiety, Palpitations, Tachycardia, Hypertension associated with pheochromocy... OMIM:115310
Sheehan Syndrome
Palpitations, Bradycardia, Orthostatic hypotension ORPHA:91355
Hypothyroidism, Congenital, Nongoitrous, 2
Lethargy, Bradycardia OMIM:218700
Parkinsonism-Dystonia, Infantile, 2
Hyperhidrosis, Abnormal autonomic nervous system physiology OMIM:618049
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Arrhythmia, Lethargy, Ventricular tachycardia, Atrioventricular block, Ventricular fibrillation, ... ORPHA:26793
Mercury Poisoning
Hypotension, Dystonia, Tachycardia, Hypertension ORPHA:330021
Myotonic Dystrophy 2
Palpitations, Tachycardia OMIM:602668
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Dystonia, Gait ataxia, Gait disturbance, Ataxia, Ventricular tachycardia, Ventricular fibrillatio... OMIM:616878
Hydroxykynureninuria
Hypotension, Tachycardia ORPHA:79155
Multiple System Atrophy, Parkinsonian Type
Autonomic erectile dysfunction, Abnormal autonomic nervous system physiology, Orthostatic hypoten... ORPHA:98933
Car T Cell Therapy-Associated Cytokine Release Syndrome
Reduced ejection fraction, Arrhythmia, Hypotension, Tachycardia, Heart block, Capillary leak ORPHA:542323
Hyperinsulinism Due To Hnf4A Deficiency
Progressive neurologic deterioration, Lethargy, Tachycardia ORPHA:263455
Congenital Disorder Of Glycosylation, Type It
Sudden cardiac death, Aborted sudden cardiac death, Tachycardia, Dilated cardiomyopathy OMIM:614921
Ethylene Glycol Poisoning
Hypotension, Atrial fibrillation, Hypertension, Ataxia, Congestive heart failure, Tachycardia, Pr... ORPHA:31826
Fatal Familial Insomnia
Hyperhidrosis, Abnormal autonomic nervous system physiology OMIM:600072
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia ORPHA:90036
Autoimmune Hemolytic Anemia, Warm Type
Congestive heart failure, Tachycardia ORPHA:90033
Multiple System Atrophy, Cerebellar Type
Autonomic erectile dysfunction, Abnormal autonomic nervous system physiology, Orthostatic hypoten... ORPHA:227510
Alacrima, Achalasia, And Mental Retardation Syndrome
Hypohidrosis, Abnormal autonomic nervous system physiology, Orthostatic hypotension OMIM:615510
Cholera
Lethargy, Hypotension, Irritability, Tachycardia, Hypovolemic shock ORPHA:173
Hereditary Pulmonary Alveolar Proteinosis
Tachycardia ORPHA:264675
Pheochromocytoma
Positive regitine blocking test, Episodic hypertension, Cerebral hemorrhage, Tachycardia, Congest... OMIM:171300
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Abnormal autonomic nervous system physiology ORPHA:168593
Scorpion Envenomation
Cardiogenic shock, Arrhythmia, Bundle branch block, Cardiac conduction abnormality, T-wave invers... ORPHA:466677
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Lethargy, Bradycardia ORPHA:226307
Acute Intermittent Porphyria
Depression, Hypertension, Tachycardia, Anxiety, Memory impairment, Mental deterioration ORPHA:79276
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Abnormal autonomic nervous system physiology OMIM:614575
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Tachycardia, Hypertrophic cardiomyopathy ORPHA:368
Variant Abeta2M Amyloidosis
Abnormal autonomic nervous system physiology ORPHA:314652
Lambert-Eaton Myasthenic Syndrome
Hypohidrosis, Abnormal autonomic nervous system physiology, Orthostatic hypotension due to autono... ORPHA:43393
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Hypertension, Tachycardia, Orthostatic hypotension, Emotional lability OMIM:223900
Melkersson-Rosenthal Syndrome
Facial palsy, Abnormal autonomic nervous system physiology ORPHA:2483
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary insufficiency, Bradycardia OMIM:614437
Porphyria Variegata
Tachycardia, Anxiety, Hypertension ORPHA:79473
Tularemia
Tachycardia ORPHA:3392
Amyloidosis, Hereditary, Transthyretin-Related
Abnormal autonomic nervous system physiology, Orthostatic hypotension due to autonomic dysfunction OMIM:105210
Insensitivity To Pain, Congenital, With Anhidrosis
Postural hypotension with compensatory tachycardia, Anhidrosis, Abnormal autonomic nervous system... OMIM:256800
Hereditary Coproporphyria
Tachycardia ORPHA:79273
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Abnormal autonomic nervous system physiology ORPHA:83601
Cocaine Intoxication
Ventricular arrhythmia, Ischemic stroke, Prolonged QRS complex, Supraventricular arrhythmia, Hypo... ORPHA:90068
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Optic atrophy, Abnormal autonomic nervous system physiology ORPHA:466934
Fructose-1,6-Bisphosphatase Deficiency
Irritability, Tachycardia ORPHA:348
Haddad Syndrome
Aganglionic megacolon, Abnormal autonomic nervous system physiology ORPHA:99803
Multiple System Atrophy 1, Susceptibility To
Hypohidrosis, Anhidrosis, Abnormal autonomic nervous system physiology, Orthostatic hypotension OMIM:146500
Congenital Fibrinogen Deficiency
Tachycardia, Internal hemorrhage ORPHA:335
Familial Dysautonomia
Orthostatic hypotension, Gait disturbance, Hypertension, Ataxia, Tachycardia ORPHA:1764
Leukodystrophy, Hypomyelinating, 12
Optic atrophy, Abnormal autonomic nervous system physiology OMIM:616683
Inherited Creutzfeldt-Jakob Disease
Abnormal autonomic nervous system physiology, Vestibular nystagmus ORPHA:282166
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Abnormal autonomic nervous system physiology OMIM:617903
Carney Triad
Hypertension, Arrhythmia, Tachycardia, Gastrointestinal hemorrhage ORPHA:139411
Relapsing Fever
Hypotension, Tachycardia, Epistaxis ORPHA:91547
Double Outlet Right Ventricle
Pulmonic stenosis, Heart murmur, Tachycardia ORPHA:3426
Severe Generalized Junctional Epidermolysis Bullosa
Dilated cardiomyopathy, Bradycardia ORPHA:79404
Central Hypoventilation Syndrome, Congenital, 1
Aganglionic megacolon, Hyperhidrosis, Abnormal autonomic nervous system physiology OMIM:209880
Infantile Neuroaxonal Dystrophy
Abnormality of peripheral nerve conduction, Optic atrophy, Abnormal autonomic nervous system phys... ORPHA:35069
Achalasia-Addisonianism-Alacrima Syndrome
Optic atrophy, Abnormal autonomic nervous system physiology, Orthostatic hypotension OMIM:231550
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Type II lissencephaly, Abnormal autonomic nervous system physiology, Polymicrogyria, Optic nerve ... ORPHA:300570
Malignant Hyperthermia Of Anesthesia
Supraventricular tachycardia, Ventricular extrasystoles, Ventricular tachycardia, High-output con... ORPHA:423
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hypohidrosis, Abnormal autonomic nervous system physiology, Long-segment aganglionic megacolon, A... OMIM:609136
Eisenmenger Syndrome
Ventricular arrhythmia, Palpitations, Lethargy, Right ventricular failure, Hepatojugular reflux, ... ORPHA:97214
Graft Versus Host Disease
Irritability, Tachycardia ORPHA:39812
Parkinson Disease 23, Autosomal Recessive Early-Onset
Abnormal autonomic nervous system physiology OMIM:616840
Machado-Joseph Disease
Abnormal autonomic nervous system physiology OMIM:109150
Adult-Onset Autosomal Dominant Leukodystrophy
Autonomic bladder dysfunction, Orthostatic hypotension, Decreased sweating due to autonomic dysfu... ORPHA:99027
Combined Oxidative Phosphorylation Defect Type 29
Abnormal autonomic nervous system physiology, Optic neuropathy ORPHA:478029
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Inability to walk, Tricuspid regurgitation, Congestive heart failure, Tachycardia, Pulmonary arte... ORPHA:505248
Renal Nutcracker Syndrome
Tachycardia, Orthostatic hypotension, Syncope ORPHA:71273
Bacterial Toxic-Shock Syndrome
Hypotension, Tachycardia, Shock, Myocarditis, Capillary leak ORPHA:36234
Fabry Disease
Hypohidrosis, Abnormal autonomic nervous system physiology OMIM:301500
Parkinson Disease, Late-Onset
Abnormal autonomic nervous system physiology OMIM:168600
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hypotension, Tachycardia, Syncope ORPHA:98849
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Abnormal cranial nerve morphology, Abnormal autonomic nervous system physiology ORPHA:247234
Ramos-Arroyo Syndrome
Aganglionic megacolon, Patent ductus arteriosus, Abnormal autonomic nervous system physiology ORPHA:1051
Plague
Arrhythmia, Hematemesis, Hypotension, Depression, Unsteady gait, Tachycardia, Anxiety ORPHA:707
Young-Onset Parkinson Disease
Abnormal autonomic nervous system physiology ORPHA:2828
Al Amyloidosis
Postural hypotension with compensatory tachycardia, Autonomic erectile dysfunction, Abnormal auto... ORPHA:85443
Trisomy 20P
Abnormal autonomic nervous system physiology ORPHA:261318
Mirizzi Syndrome
Tachycardia ORPHA:521219
Rett Syndrome
Abnormal autonomic nervous system physiology ORPHA:778
Parkinsonian-Pyramidal Syndrome
Abnormal autonomic nervous system physiology ORPHA:171695
Stuve-Wiedemann Syndrome
Abnormal autonomic nervous system physiology OMIM:601559
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormal autonomic nervous system physiology, Gray matter heterotopia ORPHA:453499
Alexander Disease
Facial palsy, Hyperhidrosis, Abnormal autonomic nervous system physiology ORPHA:58
Tick-Borne Encephalitis
Abnormal glossopharyngeal nerve morphology, Abnormal cranial nerve morphology, Abnormal autonomic... ORPHA:297
Pitt-Hopkins Syndrome
Abnormal autonomic nervous system physiology OMIM:610954
Alternating Hemiplegia Of Childhood
Hyperhidrosis, Abnormal autonomic nervous system physiology ORPHA:2131
Fragile X-Associated Tremor/Ataxia Syndrome
Abnormal autonomic nervous system physiology ORPHA:93256
Wolfram Syndrome
Optic atrophy, Abnormal autonomic nervous system physiology ORPHA:3463
Leprosy
Abnormality of the seventh cranial nerve, Hypohidrosis, Abnormal autonomic nervous system physiology ORPHA:548
45,X/46,Xy Mixed Gonadal Dysgenesis
Tachycardia, Prolonged QT interval ORPHA:1772
Stüve-Wiedemann Syndrome
Hypohidrosis, Hyperhidrosis, Abnormal autonomic nervous system physiology ORPHA:3206
Truncus Arteriosus
Abnormal heart valve physiology, Tachycardia, Pulmonic stenosis, Aortic regurgitation ORPHA:3384
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypohidrosis, Abnormal autonomic nervous system physiology ORPHA:293987
Congenital Total Pulmonary Venous Return Anomaly
Right ventricular failure, Tricuspid regurgitation, Tachycardia, Pulmonary arterial hypertension,... ORPHA:99125
Choreoacanthocytosis
Decreased amplitude of sensory action potentials, Abnormal autonomic nervous system physiology ORPHA:2388

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 Maged1

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 Maged1.

No publications found that use IMPC mice or data for Maged1.

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MGI Allele Allele Type Produced
Maged1em1(IMPC)Mbp Inter-exon deletion Mice, Tissue
Maged1tm86286(L1L2_gt0_Del_LacZ) Targeting vectors
Maged1tm86286(L1L2_Bact_P) Targeting vectors

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