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Gene: Nhlh1 MGI:98481

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Gene Summary

Name:
nescient helix loop helix 1
Synonyms:
bHLHa35,  Tal2,  Hen1,  Nscl

Order Alleles

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, incomplete penetrance Nhlh1tm1b(KOMP)Wtsi HOM   Early adult 0.00
enlarged lymph nodes Nhlh1tm1b(KOMP)Wtsi HET Early adult 0.00
increased anxiety-related response Nhlh1tm1b(KOMP)Wtsi HET Early adult 3.88×10-06
decreased prepulse inhibition Nhlh1tm1b(KOMP)Wtsi HET Early adult 2.38×10-05

Download data as:  TSV  XLS

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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 Dorso Ventral

11 Images

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Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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Histopathology

Images

1 Images

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X-ray

XRay Images Whole Body Lateral Orientation

11 Images

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Gross Pathology and Tissue Collection

Images

11 Images

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X-ray

XRay Images Skull Lateral Orientation

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X-ray

XRay Images Skull Dorso Ventral Orientation

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Immunophenotyping

Panel A FCS file(s)

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Immunophenotyping

Panel B FCS file(s)

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Human diseases caused by Nhlh1 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 Nhlh1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cardiac Conduction Defect
Syncope, Arrhythmia OMIM:115080
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Paroxysmal ventricular tachycardia,... OMIM:614021
Jervell And Lange-Nielsen Syndrome 2
Sudden cardiac death, Torsade de pointes, Syncope, Premature ventricular contraction, Prolonged Q... OMIM:612347
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Sudden cardiac death, Right ventricular cardiomyopathy, Presyncope, Congestive heart failure, Pre... OMIM:604400
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Shock, Premature ventricular contra... OMIM:615441
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Sudden cardiac death, Cardiac arrest, Syncope, Premature ventricular contraction, Ventricular tac... OMIM:614916
Cardiomyopathy, Dilated, 1E
Supraventricular tachycardia, Right bundle branch block, Reduced left ventricular ejection fracti... OMIM:601154
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Sudden cardiac death, Ventricular arrhythmia, Right ventricular cardiomyopathy OMIM:107970
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Sudden cardiac death, Premature ventricular contraction, Right ventricular cardiomyopathy OMIM:604401
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Sudden cardiac death, Torsade de pointes, Polymorphic and polytopic ventricular extrasystoles, Le... OMIM:115000
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... OMIM:616117
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Ventricular Fibrillation, Paroxysmal Familial, 2
Sudden cardiac death, Premature ventricular contraction, Ventricular fibrillation OMIM:612956
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Arrhythmia ORPHA:3193
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Presyncope, Premature ventricular contraction, Ventricular tachycardia, Palpitations, Left bundle... OMIM:618920
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Sudden cardiac death, Effort-induced polymorphic ventricular tachycardia, Syncope, Atrial standst... OMIM:604772
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Arrhythmia OMIM:212500
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Ventricular ar... OMIM:610193
His Bundle Tachycardia
Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia ORPHA:3283
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Sudden cardiac death, Right ventricular cardiomyopathy, Congestive heart failure, Premature ventr... OMIM:607450
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Ventricular fib... OMIM:616249
Long Qt Syndrome 2
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Notched... OMIM:613688
Jervell And Lange-Nielsen Syndrome 1
Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval OMIM:220400
Long Qt Syndrome 6
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Prolong... OMIM:613693
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Sudden cardiac death, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, Palpitat... OMIM:610476
Atrial Fibrillation, Familial, 9
Permanent atrial fibrillation, Syncope, Palpitations, Prolonged QTc interval, Paroxysmal atrial f... OMIM:613980
Long Qt Syndrome 1
Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval,... OMIM:192500
Long Qt Syndrome 13
Torsade de pointes, Pulmonary embolism, Permanent atrial fibrillation, Reduced left ventricular e... OMIM:613485
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Sudden cardiac death, Right ventricular cardiomyopathy, Cardiac arrest, Syncope, Epsilon wave, Pr... OMIM:609040
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Increased heart rate variability, Syncope, Bradycardia OMIM:614896
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Reduced systolic function, Congestive heart failure, Dilated cardiomyopathy OMIM:609909
Long Qt Syndrome 9
Cardiac arrest, Ventricular arrhythmia, Syncope, Prolonged QT interval, Abnormal U wave, Sinus br... OMIM:611818
Romano-Ward Syndrome
Sudden cardiac death, Abnormal T-wave, Torsade de pointes, Abnormal autonomic nervous system phys... ORPHA:101016
Long Qt Syndrome 14
T-wave alternans, Cardiac arrest, Prolonged QT interval, 2:1 atrioventricular block, Prolonged QT... OMIM:616247
Long Qt Syndrome 10
Sudden cardiac death, T-wave alternans, Prolonged QT interval, Atrioventricular block, Atrial fib... OMIM:611819
Brugada Syndrome 9
Presyncope, Palpitations, Prolonged QT interval, ST segment elevation OMIM:616399
Atrial Fibrillation, Familial, 3
Sudden cardiac death, Permanent atrial fibrillation, Syncope, Prolonged QTc interval, Atrial fibr... OMIM:607554
Severe Primary Trimethylaminuria
Aggressive behavior, Anxiety, Emotional lability, Low self esteem, Depression, Negative affectivity ORPHA:468726
Brugada Syndrome
Supraventricular tachycardia, Right bundle branch block, Trifascicular block, Cardiac arrest, Ven... ORPHA:130
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Long Qt Syndrome 12
Torsade de pointes, Syncope, Prolonged QTc interval, Ventricular fibrillation OMIM:612955
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Premature ventricular contraction, Syncope, Tachycardia OMIM:192445
Long Qt Syndrome 5
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular fibrillation, Prolonged QTc interv... OMIM:613695
Wolff-Parkinson-White Syndrome
Sudden cardiac death, Wolff-Parkinson-White syndrome, Syncope, Ventricular preexcitation with mul... OMIM:194200
Nathalie Syndrome
Arrhythmia ORPHA:2663
Atrial Standstill 1
Atrial standstill, Premature atrial contractions, Atrial cardiomyopathy, Ventricular escape rhyth... OMIM:108770
Brugada Syndrome 3
Sudden cardiac death, Ventricular arrhythmia, Syncope, J wave, Shortened QT interval, Atrial fibr... OMIM:611875
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, T-wave inversion, Ventricular arrhythmia, Syncope, Ventricular ... OMIM:611528
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Ventricular arrhythmia, Congestive heart failure, Dilated card... OMIM:600884
Familial Short Qt Syndrome
Sudden cardiac death, Ventricular arrhythmia, Syncope, Ventricular fibrillation, Palpitations, At... ORPHA:51083
Short Qt Syndrome 1
Sudden cardiac death, Cardiac arrest, Syncope, Palpitations, Shortened QT interval, Paroxysmal at... OMIM:609620
Sick Sinus Syndrome 1
Ventricular escape rhythm, Prolonged QT interval, Atrioventricular block, Absent P wave, Sick sin... OMIM:608567
Incessant Infant Ventricular Tachycardia
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac arrest, Wolff-Parkinson-White ... ORPHA:45453
Atrial Fibrillation, Familial, 11
Prolonged QRS complex, Atrial fibrillation, Reduced left ventricular ejection fraction, Prolonged... OMIM:614049
Cardiac Arrhythmia, Ankyrin-B-Related
Sudden cardiac death, Syncope, Prolonged QT interval, Atrial fibrillation, Sinus bradycardia OMIM:600919
Short Qt Syndrome 7
Sudden cardiac death, Cardiac arrest, Syncope, Shortened QT interval, Ventricular fibrillation OMIM:620231
Progressive Familial Heart Block, Type Ib
Right bundle branch block, Syncope, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Heart-Hand Syndrome, Slovenian Type
Supraventricular arrhythmia, Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial nod... ORPHA:168796
Brugada Syndrome 1
Sudden cardiac death, Right bundle branch block, Cardiac arrest, Syncope, Supraventricular tachyc... OMIM:601144
Short Qt Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Shortened QT interval, Bradycardia, Atri... OMIM:609621
Long Qt Syndrome 8
Sudden cardiac death, Syncope, Ventricular fibrillation, Aborted sudden cardiac death, Prolonged ... OMIM:618447
Long Qt Syndrome 3
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular flutter, Ventricular tachycardia, ... OMIM:603830
Panic Disorder 1
Anxiety OMIM:167870
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Sudden cardiac death, Ventricular arrhythmia, Congestive heart failure, Dilated cardiomyopathy, I... OMIM:601493
Atrial Fibrillation, Familial, 7
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged PR interval... OMIM:612240
Short Qt Syndrome 3
Shortened QT interval, Palpitations, Tachycardia OMIM:609622
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Permanent atrial fibrillation, Palpitations, Bradycardia, Fi... OMIM:617280
Catecholaminergic Polymorphic Ventricular Tachycardia
Sudden cardiac death, Ventricular tachycardia, Syncope ORPHA:3286
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
Long Qt Syndrome 16
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval OMIM:618782
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Premature ventricular contraction, Heart block ORPHA:1964
Cardiomyopathy, Dilated, 1Nn
Reduced left ventricular ejection fraction, Ventricular arrhythmia, Congestive heart failure, Inc... OMIM:615916
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Syncope, Congestive heart failure, Heart block, Arrhythmia ORPHA:871
Muscular Dystrophy, Becker Type
Cardiomyopathy, Arrhythmia, Abnormal EKG OMIM:300376
Atrial Fibrillation, Familial, 4
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Atrial fibrillation, ... OMIM:611493
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Syncope, Congestive heart failure, Asymmetric septal hypertrophy,... OMIM:600858
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Ventricular tachycardia, Syncope, Bradycardia OMIM:611938
Ventricular Fibrillation, Paroxysmal Familial, 1
Syncope, Tachycardia, Ventricular fibrillation OMIM:603829
Idiopathic Neonatal Atrial Flutter
Supraventricular tachycardia, Reduced left ventricular ejection fraction, Abnormal EKG, Paroxysma... ORPHA:45452
Attrv30M Amyloidosis
Cardiomyopathy, Abnormal autonomic nervous system physiology, Atrioventricular block, Arrhythmia ORPHA:85447
Naxos Disease
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, T-wave inversi... OMIM:601214
Obsessive-Compulsive Disorder
Skin-picking, Depression, Anxiety OMIM:164230
Atrial Fibrillation, Familial, 15
Sudden cardiac death, Atrial flutter, Supraventricular tachycardia, Atrial fibrillation OMIM:615770
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Third degree atrioventricular block, Ventricular arrhythmia, Dilated cardio... OMIM:115200
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A
Hypotension, Abnormal autonomic nervous system physiology OMIM:156310
Sick Sinus Syndrome 2
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Aortic regurgitation, Atrial f... OMIM:163800
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Dilated cardiomyopathy, Congestive heart failure, Mitral ... OMIM:615373
Brugada Syndrome 6
Cardiac arrest, Ventricular fibrillation, ST segment elevation OMIM:613119
Attrv122I Amyloidosis
Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Abnormal EKG, Abnormal au... ORPHA:85451
Nathalie Syndrome
Abnormal EKG OMIM:255990
Sick Sinus Syndrome 4
Sinoatrial block, Syncope, Abnormal PR interval, Abnormal QRS complex, Chronotropic incompetence,... OMIM:619464
Cardiomyopathy, Familial Hypertrophic, 12
Sudden cardiac death, Reduced left ventricular endsystolic diameter, Hypertrophic cardiomyopathy,... OMIM:612124
Ventricular Tachycardia, Familial
Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia, Cardiomyopathy OMIM:192605
Cardiomyopathy, Familial Hypertrophic, 7
Wolff-Parkinson-White syndrome, Apical hypertrophic cardiomyopathy, Atrial fibrillation, Hypertro... OMIM:613690
Andersen-Tawil Syndrome
Polymorphic ventricular tachycardia, Torsade de pointes, Abnormal T-wave, Ventricular arrhythmia,... ORPHA:37553
Jervell And Lange-Nielsen Syndrome
Torsade de pointes, Syncope, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation ORPHA:90647
Brugada Syndrome 2
Sudden cardiac death, Right bundle branch block, Syncope, Prolonged PR interval, First degree atr... OMIM:611777
Cardiomyopathy, Familial Hypertrophic, 25
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy OMIM:607487
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Ventricular arrhythmia, Congestive heart failure, Dilated cardiomyopa... OMIM:613424
Cardiomyopathy, Dilated, 1G
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Pre... OMIM:604145
Brugada Syndrome 4
Shortened QT interval, Atrial fibrillation, Syncope OMIM:611876
Brugada Syndrome 7
Prolonged P wave, Permanent atrial fibrillation, ST segment elevation, Atrial flutter, Paroxysmal... OMIM:613120
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Cardiac arrest, Premature ventricular contraction, Ventricular tachycardia, Atrioven... OMIM:212138
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Asymmetric septal hypertrophy, Arrhythmia OMIM:192600
Left Ventricular Noncompaction 1
Sudden cardiac death, Ventricular arrhythmia, Noncompaction cardiomyopathy, Congestive heart fail... OMIM:604169
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Cardiomyopathy, Dilated, 1D
Sudden cardiac death, Reduced left ventricular ejection fraction, Congestive heart failure, Dilat... OMIM:601494
Cardiomyopathy, Familial Hypertrophic, 8
Sudden cardiac death, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, T-w... OMIM:608751
Leber Hereditary Optic Neuropathy
Arrhythmia, Ventricular preexcitation, Optic atrophy, Retinal telangiectasia ORPHA:104
Atrial Standstill
Right bundle branch block, Mobitz I atrioventricular block, Ischemic stroke, Reduced left ventric... ORPHA:1344
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Supraventricular tachycardia, Systolic anterior motion of the mitral valve,... OMIM:608758
Cardiomyopathy, Dilated, 1Dd
Sudden cardiac death, Left ventricular systolic dysfunction, Congestive heart failure, Dilated ca... OMIM:613172
Cardiomyopathy, Dilated, 2F
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... OMIM:619747
Episodic Pain Syndrome, Familial, 3
Abnormal autonomic nervous system physiology OMIM:615552
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Ventricular tachycardia, Congestive heart failure, Dilated car... OMIM:608569
Intellectual Developmental Disorder With Cardiac Arrhythmia
Bradycardia, Sick sinus syndrome, Arrhythmia OMIM:617173
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Cardiomyopathy, Familial Hypertrophic, 16
Sudden cardiac death, Reduced left ventricular ejection fraction, Syncope, Asymmetric septal hype... OMIM:613838
Chronic Atrial And Intestinal Dysrhythmia
Pulmonic stenosis, Ventricular escape rhythm, Mitral regurgitation, Atrial flutter, Bradycardia, ... OMIM:616201
Brugada Syndrome 8
Ventricular tachycardia, Right bundle branch block, ST segment elevation OMIM:613123
Brugada Syndrome 5
Bundle branch block, Ventricular fibrillation, ST segment elevation OMIM:612838
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sudden cardiac death, Supraventricular tachycardia, Sinoatrial block, Ventricular arrhythmia, Syn... ORPHA:300751
Wild Type Attr Amyloidosis
Orthostatic hypotension due to autonomic dysfunction, Abnormal EKG, Abnormal autonomic nervous sy... ORPHA:330001
Familial Dilated Cardiomyopathy
Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Ventricular arrhy... ORPHA:217607
Cardiomyopathy, Familial Hypertrophic, 26
Sudden cardiac death, Permanent atrial fibrillation, Congestive heart failure, Hypertrophic cardi... OMIM:617047
Congenital Left Ventricular Aneurysm
Abnormal T-wave, Abnormal ST segment, Congestive heart failure, Arrhythmia ORPHA:1055
Congenital Heart Defects, Multiple Types, 3
Right bundle branch block, Atrioventricular dissociation, Atrioventricular block, Tachycardia, At... OMIM:614954
Cardiomyopathy, Familial Hypertrophic, 14
Left ventricular outflow tract obstruction, Right bundle branch block, Severely reduced left vent... OMIM:613251
Muscular Dystrophy, Progressive Pectorodorsal
Arrhythmia OMIM:310095
Glycogen Storage Disease Xv
Right bundle branch block, T-wave inversion, Paroxysmal ventricular tachycardia, ST segment eleva... OMIM:613507
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Aganglionic megacolon, Prolonged QT interval, Arrhythmia ORPHA:2151
Muscular Dystrophy, Cardiac Type
Cardiomyopathy, Abnormal EKG OMIM:309930
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Abnormal autonomic nervous system physiology, Cardiac arrest, Arrhythmia ORPHA:168593
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Premature ventricular contraction OMIM:617072
Cardiomyopathy, Dilated, 2G
Right bundle branch block, Cerebral hemorrhage, Severely reduced left ventricular ejection fracti... OMIM:619897
Cardiomyopathy, Familial Hypertrophic, 11
Right bundle branch block, Cardiac arrest, Syncope, Angina pectoris, Congestive heart failure, Hy... OMIM:612098
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Arrhythmia OMIM:618453
Myotonic Dystrophy 2
Premature ventricular contraction, Right bundle branch block, Palpitations, Tachycardia OMIM:602668
Cardiomyopathy, Familial Hypertrophic, 13
Right bundle branch block, Reduced left ventricular ejection fraction, Concentric hypertrophic ca... OMIM:613243
Cardiomyopathy, Dilated, 1Z
Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy OMIM:611879
Orthostatic Intolerance
Orthostatic tachycardia OMIM:604715
Dysautonomia-Like Disorder
Abnormal autonomic nervous system physiology OMIM:224000
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Left ventricular diastolic dysfunction, Concentric hypertrophi... OMIM:618052
Ebstein Anomaly
Sudden cardiac death, Right bundle branch block, Atrial standstill, Ventricular preexcitation, At... OMIM:224700
Sinus Node Disease And Myopia
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin OMIM:182190
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Complete heart block with narrow QRS complexes, Syncope, Atrioventricular b... OMIM:140400
Cardiomyopathy, Dilated, 1Ii
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Ventricular tachycardia,... OMIM:615184
Tako-Tsubo Cardiomyopathy
Hypotension, T-wave inversion, Ventricular arrhythmia, Cardiogenic shock, Mildly reduced left ven... ORPHA:66529
Paroxysmal Extreme Pain Disorder
Bradycardia, Tachycardia OMIM:167400
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Abnormal autonomic nervous system physiology, Aganglionic megacolon, Hypertension, Tachycardia OMIM:613870
Obesity Due To Sim1 Deficiency
Hypotension, Abnormal autonomic nervous system physiology, Postural hypotension with compensatory... ORPHA:369873
Erythermalgia, Primary
Abnormal autonomic nervous system physiology, Palpitations OMIM:133020
Trimethylaminuria
Tachycardia, Hypertension OMIM:602079
Atrial Fibrillation, Familial, 14
Prolonged PR interval, Paroxysmal atrial fibrillation, Hypertension, ST segment elevation OMIM:615378
Atrial Septal Defect, Sinus Venosus Type
Pulmonary arterial hypertension, Systolic heart murmur, Supraventricular tachycardia, Right bundl... ORPHA:99105
Atrial Septal Defect 6
Bradycardia, Atrial fibrillation OMIM:613087
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG OMIM:178650
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block OMIM:615616
Monosodium Glutamate Sensitivity
Palpitations OMIM:231630
Hemangioma-Thrombocytopenia Syndrome
Ventricular arrhythmia OMIM:141000
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Decreased nerve conduction velocity, Arrhythmia ORPHA:99944
Dystonia 23
Arrhythmia OMIM:614860
Combined Oxidative Phosphorylation Deficiency 23
Cardiomyopathy, Congestive heart failure, Arrhythmia OMIM:616198
Parkinson Disease 4, Autosomal Dominant
Orthostatic hypotension, Abnormal autonomic nervous system physiology OMIM:605543
Multiple System Atrophy
Orthostatic hypotension due to autonomic dysfunction, Abnormal autonomic nervous system physiolog... ORPHA:102
Atrial Tachyarrhythmia With Short Pr Interval
Shortened PR interval, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Paroxysmal a... OMIM:108950
Tetanus
Abnormal autonomic nervous system physiology, Hypertension, Autonomic bladder dysfunction, Bradyc... ORPHA:3299
Progressive Familial Heart Block, Type Ia
Sudden cardiac death, Right bundle branch block, Left posterior fascicular block, Syncope, Left a... OMIM:113900
Malignant Hyperthermia Of Anesthesia
Premature ventricular contraction, Supraventricular tachycardia, Ventricular tachycardia, High-ou... ORPHA:423
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Sudden cardiac death, Palpitations, Atrioventricular block, Atrial arrhythmia, Absent P wave, Fir... OMIM:310300
Cardiomyopathy, Dilated, 2B
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular e... OMIM:614672
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Supraventricular tachycardia, Cardiac arrest, Dilated cardiomyopathy, Hypertrophic cardiomyopathy... OMIM:612158
Adult-onset autosomal dominant leukodystrophy (ADLD)
Abnormal autonomic nervous system physiology DECIPHER:59
Pure Autonomic Failure
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Syncope ORPHA:441
Persistent Idiopathic Facial Pain
Abnormal autonomic nervous system physiology ORPHA:398147
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Hypertension, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythmia ORPHA:1345
Cardiomyopathy, Familial Hypertrophic, 17
Angina pectoris, Hypertrophic cardiomyopathy, Ventricular tachycardia, Palpitations, Atrial fibri... OMIM:613873
Cardiomyopathy, Familial Restrictive, 3
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de... OMIM:612422
Multiple System Atrophy, Parkinsonian Type
Orthostatic hypotension due to autonomic dysfunction, Abnormal autonomic nervous system physiolog... ORPHA:98933
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Congestive heart failure, Aortic regurgitation, Premature ventricular contraction, Shortened PR i... OMIM:620066
Symmetrical Thalamic Calcifications
Arrhythmia ORPHA:1314
Variegate Porphyria
Tachycardia OMIM:176200
Scorpion Envenomation
T-wave inversion, Cardiogenic shock, Prominent U wave, Bundle branch block, ST segment depression... ORPHA:466677
Riboflavin Transporter Deficiency
Abnormal autonomic nervous system physiology, Hypertension, Abnormal cranial nerve morphology, Op... ORPHA:97229
Andersen Cardiodysrhythmic Periodic Paralysis
Prominent U wave, Syncope, Prolonged QT interval, Palpitations, Bidirectional ventricular ectopy,... OMIM:170390
3-Methylglutaconic Aciduria, Type V
Sudden cardiac death, Optic atrophy, Dilated cardiomyopathy, Congestive heart failure, Noncompact... OMIM:610198
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Cardiac Diverticulum
Abnormal EKG, Mitral stenosis, Syncope, Angina pectoris, Congestive heart failure, Arrhythmia, Pr... ORPHA:1686
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Severely reduced left ventricular ejection fraction, Congestive heart failu... OMIM:611705
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Arrhythmia ORPHA:1808
Naxos Disease
Sudden cardiac death, Paroxysmal ventricular tachycardia, Congestive heart failure, Arrhythmia, C... ORPHA:34217
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Abnormal autonomic nervous system physiology, Bradycardia, Optic atrophy OMIM:614498
Liddle Syndrome
Hypertension, Cerebral ischemia, Arrhythmia ORPHA:526
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Abnormal autonomic nervous system physiology OMIM:615548
Propionic Acidemia
Cardiomyopathy, Arrhythmia ORPHA:35
Multiple System Atrophy, Cerebellar Type
Orthostatic hypotension due to autonomic dysfunction, Abnormal autonomic nervous system physiolog... ORPHA:227510
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Sudden cardiac death, Reduced left ventricular ejection fraction, Syncope, Dilated cardiomyopathy... OMIM:181350
Coronary Arterial Fistula
Pulmonary arterial hypertension, Systolic heart murmur, Abnormal EKG, Elevated jugular venous pre... ORPHA:2041
Atrial Standstill 2
Atrial standstill, Atrial cardiomyopathy, Palpitations, Atrial arrhythmia, Absent P wave, Bradyca... OMIM:615745
Mitchell Syndrome
Abnormal autonomic nervous system physiology OMIM:618960
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Congestive heart failure, Hypertrophic cardiomyopathy, Myocarditis, Bradyca... OMIM:617222
Atrial Fibrillation, Familial, 10
Permanent atrial fibrillation, Tricuspid regurgitation, Atrial flutter, Bradycardia, Paroxysmal a... OMIM:614022
Cardiomyopathy, Dilated, 1Y
Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume... OMIM:611878
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Right bundle branch block, T-wave inversion, Ventricular tachycardia, Palpitations, Arrhythmia, S... ORPHA:263297
Spinocerebellar Ataxia, Autosomal Recessive 23
Arrhythmia OMIM:616949
Myxopapillary Ependymoma
Autonomic bladder dysfunction ORPHA:251643
Cirrhotic Cardiomyopathy
Elevated pulmonary artery pressure, Left ventricular diastolic dysfunction, Third heart sound, Re... ORPHA:57777
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Decreased nerve conduction velocity, Arrhythmia ORPHA:2928
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Cardiomyopathy, Optic atrophy, Abnormal EKG ORPHA:1177
Cardiogenic Shock
Hypotension, Impaired myocardial contractility, Abnormal EKG, Elevated jugular venous pressure, C... ORPHA:97292
Myofibrillar Myopathy 10
Increased QRS voltage, Prolonged QTc interval OMIM:619040
Fabry Disease
Transient ischemic attack, Abnormal autonomic nervous system physiology, Congestive heart failure... OMIM:301500
Idiopathic/Heritable Pulmonary Arterial Hypertension
Pulmonary arterial hypertension, Heart murmur, Elevated jugular venous pressure, Syncope, Palpita... ORPHA:422
Epilepsy, Familial Focal, With Variable Foci 4
Abnormal autonomic nervous system physiology OMIM:617935
Variant Abeta2M Amyloidosis
Abnormal autonomic nervous system physiology, Reduced left ventricular ejection fraction ORPHA:314652
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Hypertension, Congestive heart failure, Abnormal left ventricular... OMIM:540000
Al Amyloidosis
Reduced left ventricular ejection fraction, Abnormal EKG, Abnormal autonomic nervous system physi... ORPHA:85443
Timothy Syndrome
Prolonged QT interval, Bradycardia OMIM:601005
Autosomal Dominant Epilepsy With Auditory Features
Abnormal autonomic nervous system physiology ORPHA:101046
Atrial Fibrillation, Familial, 1
Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 5
Atrial fibrillation OMIM:611494
Atrial Fibrillation, Familial, 2
Atrial fibrillation OMIM:608988
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Abnormal autonomic nervous system physiology ORPHA:139578
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Arrhythmia, Prolonged PR interval, Bradycardia, Sick sinus syndrome ORPHA:542306
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Cardiomyopathy, Arrhythmia OMIM:612999
Loeffler Endocarditis
Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Right bundle branch block, T-... ORPHA:75566
Maternally-Inherited Diabetes And Deafness
Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Arrhythmia ORPHA:225
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Arrhythmia OMIM:616516
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure OMIM:605676
Myopathy, X-Linked, With Postural Muscle Atrophy
Hypertrophic cardiomyopathy, Arrhythmia OMIM:300696
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Hypertension, Arrhythmia ORPHA:3222
Beta-Propeller Protein-Associated Neurodegeneration
Abnormal autonomic nervous system physiology, Optic atrophy ORPHA:329284
Neonatal Lupus Erythematosus
Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial node origin, Heart block, Prolon... ORPHA:398124
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypertension, Arrhythmia OMIM:617021
Peripartum Cardiomyopathy
Pulmonary arterial hypertension, Abnormal T-wave, Reduced left ventricular ejection fraction, Hea... ORPHA:563
Cardiomyopathy, Dilated, 1S
Sudden cardiac death, Pulmonary arterial hypertension, Reduced left ventricular ejection fraction... OMIM:613426
Hemochromatosis, Type 2A
Cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Arrhythmia OMIM:602390
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia OMIM:221400
Wild Type Abeta2M Amyloidosis
Decreased amplitude of sensory action potentials, Congestive heart failure, Decreased nerve condu... ORPHA:85446
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Palpitations, Tachycardia OMIM:188580
Renal Nutcracker Syndrome
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Syncope, Tachycardia ORPHA:71273
Coproporphyria, Hereditary
Tachycardia, Hypertension OMIM:121300
Mahvash Disease
Palpitations OMIM:619290
Tropical Endomyocardial Fibrosis
Systolic heart murmur, Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Cardio... ORPHA:75565
Amyloidosis, Hereditary, Transthyretin-Related
Orthostatic hypotension due to autonomic dysfunction, Abnormal autonomic nervous system physiolog... OMIM:105210
Mitochondrial Complex I Deficiency, Nuclear Type 11
Wolff-Parkinson-White syndrome, Congestive heart failure, Hypertrophic cardiomyopathy OMIM:618234
Atrial Septal Defect, Ostium Secundum Type
Pulmonary arterial hypertension, Systolic heart murmur, Supraventricular tachycardia, Transient i... ORPHA:99103
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Systolic heart murmur, Right bundle branch block, Third heart... ORPHA:1329
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Orthostatic hypotension due to autonomic dysfunction, Autonomic bladder dysfunction, Autonomic er... OMIM:169500
Cardiomyopathy, Familial Hypertrophic, 4
Sudden cardiac death, Right bundle branch block, Reduced left ventricular ejection fraction, Tran... OMIM:115197
Arrhythmogenic right ventricular dysplasia, familial, 2
Effort-induced polymorphic ventricular tachycardia, Right ventricular cardiomyopathy OMIM:600996
Congenital Muscular Dystrophy Due To Lmna Mutation
Congestive heart failure, Arrhythmia ORPHA:157973
Marshall-Smith Syndrome
Pulmonary arterial hypertension, Premature ventricular contraction, Hypertension, Optic nerve hyp... OMIM:602535
Parkinsonism-Dystonia 2, Infantile-Onset
Abnormal autonomic nervous system physiology OMIM:618049
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Prolonged QT interval OMIM:615351
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Abnormal electrophysiology of sinoatrial node origin, Sinoatrial block OMIM:609438
Danon Disease
Second degree atrioventricular block, Increased QRS voltage, Severely reduced left ventricular ej... OMIM:300257
Atrial Septal Defect, Ostium Primum Type
Pulmonary arterial hypertension, Systolic heart murmur, Right bundle branch block, Third heart so... ORPHA:99106
Autoimmune Hypoparathyroidism
Ventricular arrhythmia, Abnormal left ventricular function, Prolonged QT interval ORPHA:36913
Ogden Syndrome
Pulmonary arterial hypertension, Torsade de pointes, Supraventricular tachycardia, Premature atri... OMIM:300855
Wolfram Syndrome, Mitochondrial Form
Abnormal autonomic nervous system physiology, Optic atrophy OMIM:598500
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Right axis deviation, Right bundle branch block, Sinus tachycardia, Elevated jugular venous press... OMIM:255160
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, A... ORPHA:26793
Acquired Aneurysmal Subarachnoid Hemorrhage
Ischemic stroke, Cerebral hemorrhage, Cerebral ischemia, Syncope, ST segment depression, Congesti... ORPHA:90065
Leber Optic Atrophy
Optic neuropathy, Optic atrophy, Arrhythmia OMIM:535000
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Mildly reduced left ventricular ejection fraction, Arrhythmia OMIM:618098
Ebstein Malformation Of The Tricuspid Valve
Sudden cardiac death, Right bundle branch block, Cerebral ischemia, Congestive heart failure, Arr... ORPHA:1880
Pulmonary Hypertension, Primary, 4
Pulmonary arterial hypertension, Elevated pulmonary artery pressure, Right bundle branch block, I... OMIM:615344
Acquired Methemoglobinemia
Syncope, Palpitations, Tachycardia, Arrhythmia ORPHA:464453
Infant Acute Respiratory Distress Syndrome
Hypotension, Cardiac arrest, Bradycardia, Tachycardia ORPHA:70587
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Aganglionic megacolon, Abnormal autonomic nervous system physiology OMIM:243180
Hyperinsulinism Due To Ucp2 Deficiency
Hypertrophic cardiomyopathy, Syncope, Palpitations, Tachycardia ORPHA:276556
Familial Hyperaldosteronism Type Iii
Epistaxis, Prolonged QT interval, Intracranial hemorrhage, Hypertension ORPHA:251274
Congenital Aortic Valve Stenosis
Sudden cardiac death, Abnormal T-wave, Increased QRS voltage, Reduced left ventricular ejection f... ORPHA:3093
Combined Oxidative Phosphorylation Deficiency 38
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy OMIM:618378
Pheochromocytoma--Islet Cell Tumor Syndrome
Positive regitine blocking test, Cerebral hemorrhage, Congestive heart failure, Episodic hyperten... OMIM:171420
Caribbean Parkinsonism
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Autonomic bladder dysfunction ORPHA:97355
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Dilated cardiomyopathy, Congestive heart failure, Arrhythmia, Cardiomyopathy OMIM:310200
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypertrophic cardiomyopathy, Syncope, Palpitations, Tachycardia ORPHA:276575
Porphyria Variegata
Abnormal autonomic nervous system physiology, Hypertension, Tachycardia ORPHA:79473
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Congestive heart failure ORPHA:90037
Hemochromatosis, Type 4
Cardiomyopathy, Arrhythmia OMIM:606069
Polyvalvular Heart Disease Syndrome
Aortic valve stenosis, Arrhythmia, Pulmonic stenosis, Tricuspid regurgitation ORPHA:228410
Friedreich Ataxia
Optic atrophy, Abnormal EKG, Decreased amplitude of sensory action potentials, Congestive heart f... OMIM:229300
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypertrophic cardiomyopathy, Syncope, Palpitations, Tachycardia ORPHA:276580
Familial Multiple Nevi Flammei
Abnormal cranial nerve morphology, Pulmonary embolism, Intracranial hemorrhage, Arrhythmia ORPHA:624
Spontaneous Periodic Hypothermia
Arrhythmia ORPHA:29822
Paragangliomas 3
Hypertension associated with pheochromocytoma, Palpitations, Tachycardia OMIM:605373
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Torsade de pointes, Optic atrophy, Cardiac arrest, Hypertrophic cardiomyopathy, Ventricular tachy... OMIM:616878
Central Hypoventilation Syndrome, Congenital, 1
Abnormal autonomic nervous system physiology, Decreased heart rate variability, Aganglionic megac... OMIM:209880
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Lacunar stroke, Retinal hemorrhage, Supraventricular arrhythmia, Raynaud phenomenon OMIM:611773
Carnitine Palmitoyl Transferase 1A Deficiency
Sudden cardiac death, Hypertrophic cardiomyopathy, Arrhythmia ORPHA:156
Atrial Septal Defect, Coronary Sinus Type
Pulmonary arterial hypertension, Systolic heart murmur, Transient ischemic attack, Left-to-right ... ORPHA:99104
Thrombotic Thrombocytopenic Purpura
Myocardial infarction, Arrhythmia ORPHA:54057
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Wolff-Parkinson-White syndrome, Cardiomyopathy OMIM:619566
Mitochondrial Dna Depletion Syndrome 11
Arrhythmia, Dilated cardiomyopathy, Facial palsy OMIM:615084
Malignant Hyperthermia, Susceptibility To, 1
Hypotension, Tachycardia OMIM:145600
Posttransplant Acute Limbic Encephalitis
Abnormal autonomic nervous system physiology ORPHA:163921
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Abnormal autonomic nervous system physiology, Cerebral vasculitis ORPHA:83601
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia ORPHA:276608
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Arrhythmia, Left bundle branch block, Ventricular bigeminy, Facial palsy OMIM:610131
Cardiac Valvular Dysplasia 2
Systolic heart murmur, Left ventricular diastolic dysfunction, Pulmonary insufficiency, Heart mur... OMIM:620067
Achalasia-Addisonianism-Alacrima Syndrome
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Optic atrophy OMIM:231550
Familial Idiopathic Dilatation Of The Right Atrium
Complete heart block with narrow QRS complexes, Abnormal cardiac ventricular function, Paroxysmal... ORPHA:1677
Infantile Refsum Disease
Cardiomyopathy, Arrhythmia, Optic atrophy, Facial palsy ORPHA:772
Hyperinsulinism Due To Hnf1A Deficiency
Syncope, Palpitations, Tachycardia ORPHA:324575
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiomyopathy, Optic atrophy, Arrhythmia OMIM:249270
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, T-wave inversion, ST segment depression, Congestive heart failure, Left axis deviati... OMIM:261740
Neuroleptic Malignant Syndrome
Hypotension, Pulmonary embolism, Abnormal autonomic nervous system physiology, Hypertension, Hype... ORPHA:94093
Typhoid
Epistaxis, Cardiac arrest, Gastrointestinal hemorrhage, Arrhythmia ORPHA:99745
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Abnormal T-wave, Intracranial hemorrhage, Hypertension, Epistaxis, Palpitations ORPHA:231625
Insensitivity To Pain, Congenital, With Anhidrosis
Abnormal autonomic nervous system physiology, Postural hypotension with compensatory tachycardia OMIM:256800
Familial Isolated Restrictive Cardiomyopathy
Supraventricular arrhythmia, Syncope, Hypertrophic cardiomyopathy, Abnormal left ventricular func... ORPHA:75249
American Trypanosomiasis
Aganglionic megacolon, Congestive heart failure, Arrhythmia, Myocarditis, Cardiomyopathy ORPHA:3386
Autoimmune Hemolytic Anemia
Congestive heart failure, Arrhythmia ORPHA:98375
Cocaine Intoxication
Hypotension, Ischemic stroke, Hypovolemia, Cerebral hemorrhage, Ventricular arrhythmia, Supravent... ORPHA:90068
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Arrhythmia, Prolonged QT interval, Optic atrophy, Abnormal EKG ORPHA:480864
Ethylene Glycol Poisoning
Hypotension, Congestive heart failure, Hypertension, Shock, Prolonged QT interval, Tachycardia, A... ORPHA:31826
Inherited Creutzfeldt-Jakob Disease
Abnormal autonomic nervous system physiology, Vestibular nystagmus ORPHA:282166
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tachycardia OMIM:613239
Alternating Hemiplegia Of Childhood
Abnormal T-wave, Abnormal autonomic nervous system physiology, Cardiac conduction abnormality, Ar... ORPHA:2131
20P12.3 Microdeletion Syndrome
Wolff-Parkinson-White syndrome ORPHA:261295
Indifference To Pain, Congenital, Autosomal Recessive
Abnormal autonomic nervous system physiology, Abnormal nerve conduction velocity OMIM:243000
Hec Syndrome
Cardiomyopathy, Arrhythmia ORPHA:2119
Snakebite Envenomation
Hypotension, Cerebral ischemia, Cardiogenic shock, Intracranial hemorrhage, Epistaxis, Myocardial... ORPHA:449285
Fixed Subaortic Stenosis
Systolic heart murmur, Left ventricular outflow tract obstruction, Diastolic heart murmur, Syncop... ORPHA:3092
Thyrotoxic Periodic Paralysis
Impaired myocardial contractility, Abnormality of peripheral nerve conduction, Shortened PR inter... ORPHA:79102
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Bradycardia, Tachycardia, Atrial fibrillation OMIM:613327
Pseudohypoparathyroidism Type 2
Prolonged QT interval ORPHA:94090
Familial Isolated Hypoparathyroidism
Arrhythmia ORPHA:2238
Heart-Hand Syndrome Type 2
Arrhythmia ORPHA:1350
Drug-Induced Lupus Erythematosus
Pericarditis, Prolonged QTc interval ORPHA:231111
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Supraventricular arrhythmia, Dilated cardiomyopathy, Ventricular escape rhy... ORPHA:98855
Lambert-Eaton Myasthenic Syndrome
Orthostatic hypotension due to autonomic dysfunction, Abnormal autonomic nervous system physiology ORPHA:43393
Infantile Neuroaxonal Dystrophy
Abnormal autonomic nervous system physiology, Abnormality of peripheral nerve conduction, Optic a... ORPHA:35069
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Arrhythmia ORPHA:230839
Singleton-Merten Syndrome 2
Aortic valve stenosis, Arrhythmia OMIM:616298
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Tricuspid regurgitation OMIM:619705
Combined Oxidative Phosphorylation Deficiency 54
Optic disc pallor, Tachycardia OMIM:619737
Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Supraventricular arrhythmia, Dilated cardiomyopathy, Hypertrophic cardiomyo... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Supraventricular arrhythmia, Dilated cardiomyopathy, Hypertrophic cardiomyo... ORPHA:98853
Congenitally Uncorrected Transposition Of The Great Arteries
Left ventricular outflow tract obstruction, Abnormality of blood circulation, Cardiac shunt, Hear... ORPHA:860
Paragangliomas 1
Hypertension associated with pheochromocytoma, Palpitations, Tachycardia OMIM:168000
Leukodystrophy, Hypomyelinating, 12
Abnormal autonomic nervous system physiology, Optic atrophy OMIM:616683
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Abnormal autonomic nervous system physiology, Optic atrophy ORPHA:466934
Alexander Disease Type Ii
Abnormal autonomic nervous system physiology ORPHA:363722
Rett Syndrome
Abnormal T-wave, Prolonged QTc interval OMIM:312750
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypotension, Reduced left ventricular ejection fraction, Heart block, Capillary leak, Arrhythmia,... ORPHA:542323
Idiopathic Pulmonary Arterial Hypertension
Pulmonary arterial hypertension, Elevated pulmonary artery pressure, Heart murmur, Syncope, Conge... ORPHA:275766
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Wolff-Parkinson-White syndrome, Optic atrophy OMIM:601338
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Abnormal autonomic nervous system physiology, Decreased distal sensory nerve action potential OMIM:614575
Dk1-Cdg
Dilated cardiomyopathy, Congestive heart failure, Arrhythmia ORPHA:91131
Polymyositis
Abnormal atrioventricular conduction, Congestive heart failure, Dilated cardiomyopathy, Pericardi... ORPHA:732
Histiocytoid Cardiomyopathy
Supraventricular tachycardia, Right bundle branch block, Optic atrophy, Wolff-Parkinson-White syn... ORPHA:137675
Gitelman Syndrome
Hypotension, Prolonged QT interval, Ventricular tachycardia, Palpitations OMIM:263800
X-Linked Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Supraventricular arrhythmia, Hypertrophic cardiomyopathy, Ventricular escap... ORPHA:98863
Refsum Disease, Classic
Cardiomyopathy, Congestive heart failure, Arrhythmia OMIM:266500
Lyme Disease
Atrioventricular block, Arrhythmia ORPHA:91546
Melkersson-Rosenthal Syndrome
Abnormal autonomic nervous system physiology, Facial palsy ORPHA:2483
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Arrhythmia OMIM:273400
Alexander Disease
Sudden cardiac death, Hypotension, Abnormal autonomic nervous system physiology, Hypertension, Fa... ORPHA:58
Hydroxykynureninuria
Hypotension, Tachycardia ORPHA:79155
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Premature atrial contractions, Heart block, Supraventricular tach... ORPHA:216694
Dilated Cardiomyopathy With Ataxia
Prolonged QT interval, Dilated cardiomyopathy, Optic atrophy ORPHA:66634
Neurodegeneration With Brain Iron Accumulation 5
Abnormal autonomic nervous system physiology OMIM:300894
Combined Oxidative Phosphorylation Defect Type 23
Severely reduced left ventricular ejection fraction, Wolff-Parkinson-White syndrome, Congestive h... ORPHA:444013
Dopamine Beta-Hydroxylase Deficiency
Orthostatic hypotension, Syncope, Orthostatic syncope, Abnormal EKG ORPHA:230
Ataxia With Vitamin E Deficiency
Hypertrophic cardiomyopathy, Arrhythmia ORPHA:96
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cardiomyopathy, Bradycardia, Arrhythmia OMIM:609286
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Absent tonsils, Lymph node hypoplasia, Aplasia of the thymus, Spleno... OMIM:602450
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Right bundle branch block, Brachial plexus neuropathy, Reduced left ventricular ejection fraction... ORPHA:268
Multiple System Atrophy 1, Susceptibility To
Orthostatic hypotension, Abnormal autonomic nervous system physiology OMIM:146500
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia ORPHA:90036
Haddad Syndrome
Aganglionic megacolon, Abnormal autonomic nervous system physiology ORPHA:99803
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Heart murmur, Hypertension, Abnormal left ventricular function, Left anterior fascicular block, A... ORPHA:437572
Hereditary Pulmonary Alveolar Proteinosis
Tachycardia ORPHA:264675
Tremor-Ataxia-Central Hypomyelination Syndrome
Autonomic bladder dysfunction, Optic atrophy ORPHA:447896
Cerebral Creatine Deficiency Syndrome 1
Aganglionic megacolon, Prolonged QT interval OMIM:300352
Autoimmune Hemolytic Anemia, Warm Type
Tachycardia, Congestive heart failure ORPHA:90033
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormality of somatosensory evoked potentials, Abnormal auditory evoked potentials, Abnormal aut... ORPHA:99027
Linear Skin Defects With Multiple Congenital Anomalies 3
Histiocytoid cardiomyopathy, Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Ven... OMIM:300952
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hypertrophic cardiomyopathy, Congestive heart failure, Arrhythmia ORPHA:1194
Machado-Joseph Disease
Abnormal autonomic nervous system physiology OMIM:109150
Fragile X-Associated Tremor/Ataxia Syndrome
Hypotension, Abnormal autonomic nervous system physiology, Hypertension ORPHA:93256
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dilated cardiomyopathy, Arrhythmia ORPHA:352447
Hemochromatosis, Type 1
Cardiomyopathy, Telangiectasia, Congestive heart failure, Arrhythmia OMIM:235200
Fatal Familial Insomnia
Abnormal autonomic nervous system physiology OMIM:600072
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Arrhythmia ORPHA:3201
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Telangiectasia of the skin, Cerebral ischemia, Optic atrophy, Arrhythmia ORPHA:60040
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Abnormal autonomic nervous system physiology, Aganglionic megacolon, Absent brainstem auditory re... OMIM:609136
Pheochromocytoma
Positive regitine blocking test, Cerebral hemorrhage, Congestive heart failure, Episodic hyperten... OMIM:171300
Juvenile Neuronal Ceroid Lipofuscinosis
Optic disc pallor, Tachycardia ORPHA:79264
Subaortic Stenosis-Short Stature Syndrome
Arrhythmia ORPHA:3191
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypertrophic cardiomyopathy, Prolonged QT interval, Dilated cardiomyopathy ORPHA:71212
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Hypertrophic cardiomyopathy, Tachycardia ORPHA:368
Eisenmenger Syndrome
Pulmonary arterial hypertension, Supraventricular tachycardia, Right bundle branch block, Heart m... ORPHA:97214
Systemic Capillary Leak Syndrome
Hypotension, Myocarditis, Pericarditis, Arrhythmia ORPHA:188
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Abnormal autonomic nervous system physiology OMIM:617903
Hydrops Fetalis
Capillary leak, Arrhythmia ORPHA:1041
Glycogen Storage Disease Due To Aldolase A Deficiency
Arrhythmia ORPHA:57
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Abnormal autonomic nervous system physiology, Optic nerve hypoplasia ORPHA:300570
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia OMIM:229700
Kearns-Sayre Syndrome
Cardiomyopathy, Third degree atrioventricular block, Arrhythmia OMIM:530000
Chromosome 2Q37 Deletion Syndrome
Arrhythmia OMIM:600430
Barth Syndrome
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy... OMIM:302060
Wolfram Syndrome
Abnormal autonomic nervous system physiology, Gastrointestinal hemorrhage, Optic atrophy, Cardiom... ORPHA:3463
Gitelman Syndrome
Abnormal T-wave, Prominent U wave, Raynaud phenomenon, Low-to-normal blood pressure, Syncope, ST ... ORPHA:358
Parkinson Disease 23, Autosomal Recessive Early-Onset
Abnormal autonomic nervous system physiology OMIM:616840
Congenital Sialidosis Type 2
Telangiectasia, Optic atrophy, Abnormal EKG ORPHA:93400
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Ventricular arrhythmia, Supraventricular arrhythmia, Congestive heart failure, Hypertrophic cardi... ORPHA:280365
Acute Transverse Myelitis
Abnormal autonomic nervous system physiology, Hypertension, Autonomic bladder dysfunction, Orthos... ORPHA:139417
Mercury Poisoning
Hypotension, Tachycardia, Hypertension ORPHA:330021
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Pulmonary arterial hypertension, Prolonged QT interval, Optic nerve hypoplasia OMIM:620029
Recessive Mitochondrial Ataxia Syndrome
ST segment elevation ORPHA:94125
Combined Oxidative Phosphorylation Defect Type 29
Abnormal autonomic nervous system physiology, Optic neuropathy ORPHA:478029
Heart Block, Congenital
Mitral regurgitation, Atrioventricular block, Absent atrioventricular node, Atrial arrhythmia, Ca... OMIM:234700
Carnitine Palmitoyltransferase I Deficiency
Arrhythmia OMIM:255120
Noonan Syndrome 5
Hypertrophic cardiomyopathy, Pulmonic stenosis, Arrhythmia OMIM:611553
Spondyloarthropathy, Susceptibility To, 1
Aortic regurgitation, Arrhythmia OMIM:106300
Chronic Thromboembolic Pulmonary Hypertension
Pulmonary arterial hypertension, Pulmonary embolism, Abnormal T-wave, Right bundle branch block, ... ORPHA:70591
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Pulmonic stenosis, Paroxysmal supraventricular tachycardia, Arrhythmia OMIM:617877
Botulism
Arrhythmia ORPHA:1267
Serotonin Syndrome
Hypotension, Tachycardia, Abnormality of the autonomic nervous system, Hypertension ORPHA:43116
Autosomal Dominant Progressive External Ophthalmoplegia
Reduced left ventricular ejection fraction, Ventricular arrhythmia, Dilated cardiomyopathy, Facia... ORPHA:254892
Congenital Fibrinogen Deficiency
Tachycardia, Internal hemorrhage ORPHA:335
Absence Of The Pulmonary Artery
Pulmonary arterial hypertension, Systolic heart murmur, Reduced left ventricular ejection fractio... ORPHA:980
Trisomy 20P
Abnormal autonomic nervous system physiology ORPHA:261318
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Cardiomyopathy, Ventricular tachycardia, Arrhythmia ORPHA:159
Tularemia
Tachycardia ORPHA:3392
Generalized Pseudohypoaldosteronism Type 1
Hypovolemic shock, Arrhythmia ORPHA:171876
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Abnormal autonomic nervous system physiology, Abnormal cranial nerve morphology ORPHA:247234
Stiff-Person Syndrome
Tachycardia, Hypertension OMIM:184850
Exercise-Induced Malignant Hyperthermia
Hypotension, Abnormal T-wave, Sinus tachycardia, Abnormal pulse pressure, ST segment depression, ... ORPHA:466650
Foodborne Botulism
Arrhythmia ORPHA:228371
Young-Onset Parkinson Disease
Abnormal autonomic nervous system physiology ORPHA:2828
Rheumatic Fever
Pericarditis, Myocarditis, Epistaxis, Arrhythmia ORPHA:3099
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Arrhythmia ORPHA:42
Hyperkalemic Periodic Paralysis
Congestive heart failure, Arrhythmia ORPHA:682
Dextrocardia
T-wave inversion, Abnormal EKG ORPHA:1666
Hereditary Coproporphyria
Tachycardia ORPHA:79273
Stuve-Wiedemann Syndrome 1
Pulmonary arterial hypertension, Abnormal autonomic nervous system physiology OMIM:601559
Glycogen Storage Disease Ii
Right axis deviation, Sinus tachycardia, Wolff-Parkinson-White syndrome, Shortened PR interval, S... OMIM:232300
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Cardiomyopathy, Arrhythmia ORPHA:228305
Parkinson Disease, Late-Onset
Abnormal autonomic nervous system physiology OMIM:168600
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Relapsing Fever
Hypotension, Epistaxis, Tachycardia ORPHA:91547
Paragangliomas 4
Hypertension associated with pheochromocytoma, Palpitations, Tachycardia OMIM:115310
Mitochondrial Trifunctional Protein Deficiency 1
Dilated cardiomyopathy, Congestive heart failure, Arrhythmia OMIM:609015
Ileal Neuroendocrine Tumor
Hypotension, Arterial occlusion, Cardiogenic shock, Arrhythmia, Right ventricular failure, Palpit... ORPHA:100078
Jejunal Neuroendocrine Tumor
Hypotension, Arterial occlusion, Cardiogenic shock, Arrhythmia, Right ventricular failure, Palpit... ORPHA:100077
Carney Triad
Tachycardia, Hypertension, Gastrointestinal hemorrhage, Arrhythmia ORPHA:139411
Rett Syndrome
Abnormal autonomic nervous system physiology ORPHA:778
Microscopic Polyangiitis
Congestive heart failure, Pericarditis, Epistaxis, Gastrointestinal hemorrhage, Arrhythmia, Vascu... ORPHA:727
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Tachycardia, Hypertension OMIM:223900
Parkinsonian-Pyramidal Syndrome
Abnormal autonomic nervous system physiology ORPHA:171695
Agel Amyloidosis
Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, Cardiomyopathy, Facial palsy ORPHA:85448
Nmda Receptor Encephalitis
Orthostatic tachycardia, Abnormal autonomic nervous system physiology, Abnormal sudomotor regulat... ORPHA:217253
Ramos-Arroyo Syndrome
Abnormal autonomic nervous system physiology, Aganglionic megacolon ORPHA:1051
Combined Oxidative Phosphorylation Deficiency 15
Optic atrophy, Wolff-Parkinson-White syndrome, Hypertension, Shortened PR interval, Optic disc pa... OMIM:614947
Porphyria, Acute Intermittent
Tachycardia, Hypertension OMIM:176000
Mitochondrial Trifunctional Protein Deficiency
Tricuspid regurgitation, Congestive heart failure, Mitral regurgitation, Arrhythmia, Cardiomyopathy ORPHA:746
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Lymph node hypoplasia ORPHA:276
Giant Cell Arteritis
Sudden cardiac death, Optic atrophy, Cerebral ischemia, Epistaxis, Pericarditis, Arrhythmia, Vasc... ORPHA:397
16P12.1P12.3 Triplication Syndrome
Tachycardia ORPHA:485405
Ogden Syndrome
Cardiogenic shock, Arrhythmia ORPHA:276432
Juvenile Dermatomyositis
Mucosal telangiectasiae, Bundle branch block, Telangiectasia of the skin, Vasculitis, Angina pect... ORPHA:93672
Pseudohypoparathyroidism Type 1B
Prolonged QT interval ORPHA:94089
Colchicine Poisoning
Hypotension, Hypovolemia, Cardiogenic shock, Congestive heart failure, Arrhythmia, Myocarditis ORPHA:31824
Congenital Hypothyroidism
Hypotension, Hypertension, Optic atrophy, Arrhythmia ORPHA:442
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Arrhythmia ORPHA:2878
Familial Dysautonomia
Orthostatic hypotension, Tachycardia, Hypertension, Optic atrophy ORPHA:1764
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormal autonomic nervous system physiology ORPHA:453499
Mastocytosis
Hypotension, Telangiectasia of the skin, Gastrointestinal hemorrhage, Arrhythmia ORPHA:98292
Symptomatic Form Of Hemochromatosis Type 1
Elevated jugular venous pressure, Congestive heart failure, Arrhythmia, Portal hypertension, Card... ORPHA:465508
Tick-Borne Encephalitis
Abnormal autonomic nervous system physiology, Abnormal glossopharyngeal nerve morphology, Abnorma... ORPHA:297
Legionnaires Disease
Hypotension, Myocarditis, Pericarditis, Arrhythmia ORPHA:549
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Mitral regurgitation, Arrhythmia ORPHA:254346
Double Outlet Right Ventricle
Tachycardia, Pulmonic stenosis, Heart murmur ORPHA:3426
Craniofaciofrontodigital Syndrome
Pulmonary arterial hypertension, Persistent fetal circulation, Congestive heart failure, Mitral r... ORPHA:363705
Hyperinsulinism Due To Hnf4A Deficiency
Tachycardia ORPHA:263455
Congenital Disorder Of Glycosylation, Type It
Sudden cardiac death, Pulmonary arterial hypertension, Dilated cardiomyopathy, Aborted sudden car... OMIM:614921
Duodenal Neuroendocrine Tumor
Hypotension, Cardiogenic shock, Arrhythmia, Right ventricular failure, Palpitations, Tricuspid st... ORPHA:100076
Hyperthyroidism, Nonautoimmune
Tachycardia OMIM:609152
Purine Nucleoside Phosphorylase Deficiency
Lymph node hypoplasia, Splenomegaly OMIM:613179
Ivic Syndrome
Arrhythmia ORPHA:2307
Primary Triglyceride Deposit Cardiomyovasculopathy
Angina pectoris, Low-output congestive heart failure, Palpitations, Arrhythmia, Cardiomyopathy ORPHA:565612
Friedreich Ataxia 2
Abnormality of peripheral nerve conduction, Congestive heart failure, Concentric hypertrophic car... OMIM:601992
Autosomal Dominant Hypocalcemia
Hypotension, Congestive heart failure, Optic atrophy, Arrhythmia ORPHA:428
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Arrhythmia OMIM:171480
Genetic Recurrent Myoglobinuria
Arrhythmia ORPHA:99845
Pseudohypoparathyroidism Type 1C
Prolonged QT interval ORPHA:79444
Multiple Acyl-Coa Dehydrogenase Deficiency
Cardiomyopathy, Congestive heart failure, Arrhythmia ORPHA:26791
Hennekam-Beemer Syndrome
Hypotension, Telangiectasia of the skin, Optic atrophy, Arrhythmia ORPHA:2135
16P11.2P12.2 Microdeletion Syndrome
Arrhythmia, Tricuspid regurgitation ORPHA:261211
Tsh-Secreting Pituitary Adenoma
Hypotension, Ventricular arrhythmia, Supraventricular arrhythmia, Congestive heart failure, Hyper... ORPHA:91347
17Q24.2 Microdeletion Syndrome
Prolonged QT interval, Pulmonic stenosis ORPHA:529962
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Retinal hemorrhage, Bradycardia, Hypertension, Tachycardia OMIM:614653
Leprosy
Epistaxis, Abnormal autonomic nervous system physiology, Abnormality of the seventh cranial nerve ORPHA:548
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Arrhythmia ORPHA:3220
Von Hippel-Lindau Disease
Myocarditis, Hypertension, Myocardial infarction, Abnormal left ventricular function, Palpitation... ORPHA:892
Fabry Disease
Mucosal telangiectasiae, Optic atrophy, Transient ischemic attack, Bundle branch block, Telangiec... ORPHA:324
Lymphedema-Distichiasis Syndrome
Arrhythmia ORPHA:33001
Pseudohypoparathyroidism Type 1A
Prolonged QT interval, Hypertension ORPHA:79443
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Atrioventricular block, Arrhythmia ORPHA:93317
Dpagt1-Cdg
Prolonged QT interval, Diffuse optic disc pallor, Intracranial hemorrhage, Optic atrophy ORPHA:86309
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Hypertrophic cardiomyopathy, Arrhythmia OMIM:615471
45,X/46,Xy Mixed Gonadal Dysgenesis
Prolonged QT interval, Tachycardia ORPHA:1772
Cholera
Hypotension, Hypovolemic shock, Tachycardia ORPHA:173
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia ORPHA:348
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Arrhythmia OMIM:619184
Noonan Syndrome With Multiple Lentigines
Bundle branch block, Hypertrophic cardiomyopathy, Myocardial infarction, Arrhythmia, Pulmonic ste... ORPHA:500
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Hypertrophic cardiomyopathy, Hypertension, Arrhythmia OMIM:614052
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Tachycardia, Dilated cardiomyopathy OMIM:618321
Phakomatosis Pigmentokeratotica
Raynaud phenomenon, Arrhythmia ORPHA:2874
Sepsis In Premature Infants
Hypotension, Bradycardia, Tachycardia ORPHA:90051
Imerslund-Gräsbeck Syndrome
Tachycardia ORPHA:35858
Melas
Pulmonary arterial hypertension, Concentric hypertrophic cardiomyopathy, Optic atrophy, Wolff-Par... ORPHA:550
Hyperparathyroidism-Jaw Tumor Syndrome
Shortened QT interval ORPHA:99880
Bacterial Toxic-Shock Syndrome
Hypotension, Shock, Capillary leak, Myocarditis, Tachycardia ORPHA:36234
Rh Deficiency Syndrome
Tachycardia ORPHA:71275
Localized Scleroderma
Vasculitis, Raynaud phenomenon, Arrhythmia ORPHA:90289
Parathyroid Carcinoma
Shortened QT interval ORPHA:143
Simpson-Golabi-Behmel Syndrome
Bundle branch block, Prolonged QT interval, Cardiomyopathy ORPHA:373
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Antenatal intracerebral hemorrhage, Dilated cardiomyopathy, Arrhythmia OMIM:608836
Hemorrhagic Fever-Renal Syndrome
Hypotension, Intracranial hemorrhage, Internal hemorrhage, Hypertension, Shock, Epistaxis, Palpit... ORPHA:340
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Pulmonary arterial hypertension, Reduced left ventricular ejection fraction, Facial palsy, Arrhyt... ORPHA:258
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cardiomyopathy, Arrhythmia, Heart block ORPHA:228308
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Pulmonary arterial hypertension, Optic atrophy, Congestive heart failure, Hypertrophic cardiomyop... ORPHA:505248
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hypotension, Syncope, Tachycardia ORPHA:98849
Carnitine Palmitoyltransferase Ii Deficiency
Cardiomyopathy, Arrhythmia ORPHA:157
Crimean-Congo Hemorrhagic Fever
Hypotension, Pulmonary arterial hypertension, Retinal hemorrhage, Myocarditis, Hemothorax, Hemope... ORPHA:99827
Mirizzi Syndrome
Tachycardia ORPHA:521219
Dominant Beta-Thalassemia
Arrhythmia, Dilated cardiomyopathy, High-output congestive heart failure ORPHA:231226
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Aganglionic megacolon, Arrhythmia ORPHA:163746
Multiple Endocrine Neoplasia Type 1
Cranial nerve compression, Hypertension, Hematemesis, Shortened QT interval, Melena ORPHA:652
Graft Versus Host Disease
Tachycardia ORPHA:39812
Dermatomyositis
Pulmonary arterial hypertension, Sinus tachycardia, Telangiectasia of the skin, Pericarditis, Myo... ORPHA:221
Mgat2-Cdg
Reflex asystolic syncope, Arrhythmia ORPHA:79329
Wiskott-Aldrich Syndrome
Sudden cardiac death, Intracranial hemorrhage, Internal hemorrhage, Epistaxis, Arrhythmia, Hemate... ORPHA:906
Pagod Syndrome
Sudden cardiac death, Optic atrophy, Arrhythmia ORPHA:991
Choreoacanthocytosis
Abnormal autonomic nervous system physiology, Decreased amplitude of sensory action potentials, D... ORPHA:2388
Kleefstra Syndrome
Arrhythmia ORPHA:261494
Lymphedema-Distichiasis Syndrome
Arrhythmia OMIM:153400
Beta-Thalassemia Major
Arrhythmia, Dilated cardiomyopathy, High-output congestive heart failure ORPHA:231214
Linear Skin Defects With Multiple Congenital Anomalies 1
Histiocytoid cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia OMIM:309801
Leptospirosis
Hypotension, Retinal hemorrhage, Pulmonary hemorrhage, Subconjunctival hemorrhage, Pericarditis, ... ORPHA:509
Acute Intermittent Porphyria
Tachycardia, Hypertension ORPHA:79276
Oculodentodigital Dysplasia
Optic atrophy, Arrhythmia ORPHA:2710
Ulnar-Mammary Syndrome
Arrhythmia ORPHA:3138
Chromosome 1P36 Deletion Syndrome, Proximal
Wolff-Parkinson-White syndrome, Pulmonic stenosis, Dilated cardiomyopathy OMIM:619343
Granulomatosis With Polyangiitis
Cerebral ischemia, Angina pectoris, Hypertension, Pericarditis, Epistaxis, Gastrointestinal hemor... ORPHA:900
Familial Mediterranean Fever
Pericarditis, Myocardial infarction, Vasculitis, Arrhythmia ORPHA:342
African Trypanosomiasis
Myocarditis, Third degree atrioventricular block, Abnormal EKG, Congestive heart failure, Pericar... ORPHA:3385
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Abnormal autonomic nervous system physiology ORPHA:293987
Cerebellar-Facial-Dental Syndrome
Abnormal T-wave ORPHA:444072
Agammaglobulinemia, X-Linked
Lymph node hypoplasia OMIM:300755
Turner Syndrome Due To Structural X Chromosome Anomalies
Myocardial infarction, Prolonged QT interval, Hypertension ORPHA:99413
Turner Syndrome
Myocardial infarction, Prolonged QT interval, Hypertension ORPHA:881
Mosaic Monosomy X
Myocardial infarction, Prolonged QT interval, Hypertension ORPHA:99228
Monosomy X
Myocardial infarction, Prolonged QT interval, Hypertension ORPHA:99226
Kawasaki Disease
Congestive heart failure, Pericarditis, Arrhythmia, Myocarditis, Vasculitis ORPHA:2331
Stüve-Wiedemann Syndrome
Abnormal autonomic nervous system physiology ORPHA:3206
Tuberous Sclerosis 1
Wolff-Parkinson-White syndrome OMIM:191100
Marburg Hemorrhagic Fever
Hypotension, Hypovolemia, Internal hemorrhage, Shock, Pericarditis, Capillary leak, Subconjunctiv... ORPHA:99826
Cockayne Syndrome B
Optic atrophy, Abnormal auditory evoked potentials, Hypertension, Decreased nerve conduction velo... OMIM:133540
Cockayne Syndrome A
Optic atrophy, Abnormal auditory evoked potentials, Hypertension, Decreased nerve conduction velo... OMIM:216400
Mucopolysaccharidosis Type 2
Optic atrophy, Hypertension, Decreased nerve conduction velocity, Arrhythmia, Papilledema, Cardio... ORPHA:580
Amoebiasis Due To Free-Living Amoebae
Arrhythmia, Facial palsy ORPHA:68
Oculodentodigital Dysplasia
Arrhythmia OMIM:164200
Mucopolysaccharidosis Type 2, Severe Form
Optic atrophy, Heart murmur, Hypertension, Arrhythmia, Papilledema, Cardiomyopathy ORPHA:217085
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Wolff-Parkinson-White syndrome ORPHA:369950
Tuberous Sclerosis 2
Wolff-Parkinson-White syndrome OMIM:613254
Mucopolysaccharidosis Type 2, Attenuated Form
Optic atrophy, Heart murmur, Hypertension, Arrhythmia, Papilledema, Cardiomyopathy ORPHA:217093
Holoprosencephaly
Optic atrophy, Arrhythmia ORPHA:2162
Schwartz-Jampel Syndrome
Pulmonary arterial hypertension, Arrhythmia ORPHA:800
Woodhouse-Sakati Syndrome
Abnormal T-wave OMIM:241080
Noonan Syndrome
Arrhythmia ORPHA:648
Microphthalmia With Linear Skin Defects Syndrome
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Mitral regurgitation, Arrhythmia, Tricuspid ... ORPHA:2556
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Arrhythmia OMIM:250220
Costello Syndrome
Hypertrophic cardiomyopathy, Arrhythmia, Pulmonic stenosis, Vestibular schwannoma OMIM:218040
Smith-Lemli-Opitz Syndrome
Ventricular fibrillation, Aganglionic megacolon, Hypertension, Hypertrophic cardiomyopathy OMIM:270400
Woodhouse-Sakati Syndrome
Abnormal T-wave ORPHA:3464
Specc1L-Related Hypertelorism Syndrome
Arrhythmia ORPHA:1519
Truncus Arteriosus
Aortic regurgitation, Abnormal heart valve physiology, Pulmonic stenosis, Tachycardia ORPHA:3384
Plague
Hypotension, Tachycardia, Hematemesis, Arrhythmia ORPHA:707
Sarcoidosis
Abnormal cardiac ventricular function, Heart block, Ventricular tachycardia, Arrhythmia, Portal h... ORPHA:797
Degcags Syndrome
Pulmonary arterial hypertension, Tachycardia, Pulmonic stenosis OMIM:619488
Proteasome-Associated Autoinflammatory Syndrome 1
Congestive heart failure, Arrhythmia OMIM:256040
Stickler Syndrome
Arrhythmia ORPHA:828
Hypermobile Ehlers-Danlos Syndrome
Decreased nerve conduction velocity, Arrhythmia ORPHA:285
Ulnar-Mammary Syndrome
Arrhythmia OMIM:181450
Congenital Total Pulmonary Venous Return Anomaly
Pulmonary arterial hypertension, Right ventricular failure, Mitral regurgitation, Low-output cong... ORPHA:99125
Cardiac-Urogenital Syndrome
Tachycardia OMIM:618280
Simpson-Golabi-Behmel Syndrome, Type 1
Arrhythmia, Pulmonic stenosis, Cardiomyopathy OMIM:312870

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 Nhlh1

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 Nhlh1.

No publications found that use IMPC mice or data for Nhlh1.

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MGI Allele Allele Type Produced
Nhlh1tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Nhlh1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Nhlh1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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