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Gene: Scn3b MGI:1918882

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Gene Summary

Name:
sodium channel, voltage-gated, type III, beta
Synonyms:
1110001K16Rik,  4833414B02Rik

Order Alleles

IMPC Data Collections

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
abnormal bone structure Scn3btm1a(KOMP)Wtsi HOM Early adult 4.15×10-05
vertebral fusion Scn3btm1a(KOMP)Wtsi HOM   Early adult 8.79×10-05

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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 Forepaw

12 Images

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X-ray

XRay Images Whole Body Dorso Ventral

13 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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X-ray

XRay Images Skull Lateral Orientation

12 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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Legacy Phenotype Associated Images
Scn3btm1a(KOMP)Wtsi
HOM, Male, WTSI
Scn3btm1a(KOMP)Wtsi
HOM, Male, WTSI
Scn3btm1a(KOMP)Wtsi
HOM, Male, WTSI
Scn3btm1a(KOMP)Wtsi
HOM, Female, WTSI
Scn3btm1a(KOMP)Wtsi
HOM, Female, WTSI

View all 64 images

Scn3btm1a(KOMP)Wtsi
back skin, HOM, Female, WTSI
Scn3btm1a(KOMP)Wtsi
back skin, HOM, Female, WTSI
Scn3btm1a(KOMP)Wtsi
persistence of hyaloid vascular system, HOM, Female, WTSI

Human diseases caused by Scn3b mutations

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

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

The table below shows human diseases associated to Scn3b by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Brugada Syndrome
Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc... ORPHA:130
Brugada Syndrome 7
Paroxysmal atrial fibrillation, Atrial flutter, ST segment elevation, Permanent atrial fibrillati... OMIM:613120
Familial Atrial Fibrillation
Atrial fibrillation, Palpitations, Syncope, Myocardial infarction ORPHA:334

The table below shows human diseases predicted to be associated to Scn3b by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cardiac Conduction Defect
Syncope, Arrhythmia OMIM:115080
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia OMIM:614896
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Arrhythmia OMIM:212500
Atrial Fibrillation, Familial, 11
Atrial fibrillation, Prolonged QRS complex, Reduced left ventricular ejection fraction, Prolonged... OMIM:614049
His Bundle Tachycardia
Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia ORPHA:3283
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602086
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602087
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death OMIM:107970
Long Qt Syndrome 2
Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Notched T wave, Ventricular fibril... OMIM:613688
Brugada Syndrome 9
Presyncope, ST segment elevation, Prolonged QT interval, Palpitations OMIM:616399
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Long Qt Syndrome 9
Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia... OMIM:611818
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Syncope, P... OMIM:613980
Long Qt Syndrome 10
Prolonged QT interval, Atrial fibrillation, T-wave alternans, Atrioventricular block, Sudden card... OMIM:611819
Jervell And Lange-Nielsen Syndrome 1
Prolonged QT interval, Prolonged QTc interval, Sudden cardiac death, Syncope, Torsade de pointes OMIM:220400
Long Qt Syndrome 6
Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Ventricular fibrillation, Sudden c... OMIM:613693
Cardiomyopathy, Familial Hypertrophic, 3
Sudden cardiac death, Hypertrophic cardiomyopathy OMIM:115196
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Wolff-Parkinson-White syndrome, Histiocytoid cardiomyopathy, Supraventr... ORPHA:45453
Wolff-Parkinson-White Syndrome
Paroxysmal atrial fibrillation, Wolff-Parkinson-White syndrome, Atrial flutter, Syncope, Ventricu... OMIM:194200
Brugada Syndrome 3
J wave, Atrial fibrillation, Shortened QT interval, Ventricular arrhythmia, Syncope, Sudden cardi... OMIM:611875
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Prolonged QTc interval, Atrial fibrillation, Permanent atrial fib... OMIM:607554
Long Qt Syndrome 14
2:1 atrioventricular block, Prolonged QT interval, Prolonged QTc interval, T-wave alternans, Card... OMIM:616247
Long Qt Syndrome 13
Congestive heart failure, Reduced left ventricular ejection fraction, Prolonged QTc interval, Syn... OMIM:613485
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v... OMIM:604400
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Sick Sinus Syndrome 4
Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma... OMIM:619464
Long Qt Syndrome 1
Prolonged QT interval, Prolonged QTc interval, Ventricular fibrillation, Sudden cardiac death, Sy... OMIM:192500
Brugada Syndrome
Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc... ORPHA:130
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Reduced systolic function OMIM:609909
Brugada Syndrome 6
ST segment elevation, Cardiac arrest, Ventricular fibrillation OMIM:613119
Brugada Syndrome 7
Paroxysmal atrial fibrillation, Atrial flutter, ST segment elevation, Permanent atrial fibrillati... OMIM:613120
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Ventricular arrhythmia, Ventricular tachycardia, Prolonged QRS ... OMIM:611528
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Muscular dystrophy, Muscle eosinophilia, Myositis, Scapular winging, Facial palsy, Proximal amyot... OMIM:253600
Nathalie Syndrome
Abnormal EKG OMIM:255990
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
Long Qt Syndrome 12
Prolonged QTc interval, Ventricular fibrillation, Syncope, Torsade de pointes OMIM:612955
Nathalie Syndrome
Arrhythmia ORPHA:2663
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Shortened QT interval, Syncope, Palpitations, Sud... OMIM:609620
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Arrhythmia, Dilated cardiomyop... ORPHA:168796
Sick Sinus Syndrome 1
Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove... OMIM:608567
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, Palpitations, Sudden cardiac d... OMIM:610476
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Premature ventricular contraction, Sudden cardiac death, Syncope, Torsade ... OMIM:612347
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation, First d... OMIM:617280
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Paget disease of bone, Myositis, Rimmed vacuoles, Centrally nucleated skeletal muscle fibers, Mus... OMIM:615422
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Polymorphic ventricular tachycardia, Prolonged QT interval, Paroxysmal ventricular tachycardia, P... OMIM:614021
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sinus bradycardia, Syncope, Sudden cardiac death OMIM:600919
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Posterior fusion of lumbosacral vertebrae, Tarsal synostosis, Abnormal form of the... ORPHA:2064
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Polymorphic ventricular tachycardia, Prolonged QT interval, Cardiac arrest, Premature ventricular... OMIM:615441
Muscular Dystrophy, Becker Type
Cardiomyopathy, Abnormal EKG, Arrhythmia OMIM:300376
Cardiomyopathy, Dilated, 1Nn
Congestive heart failure, Reduced left ventricular ejection fraction, Abnormal ST segment, Ventri... OMIM:615916
Myositis
Myositis OMIM:160750
Atrial Fibrillation, Familial, 4
Paroxysmal atrial fibrillation, Atrial fibrillation, Permanent atrial fibrillation, Premature atr... OMIM:611493
Short Qt Syndrome 7
Cardiac arrest, Ventricular fibrillation, Shortened QT interval, Syncope, Sudden cardiac death OMIM:620231
Long Qt Syndrome 5
Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,... OMIM:613695
Brugada Syndrome 1
Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria... OMIM:601144
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ... OMIM:604559
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal QRS complex, Reduced left ventricular ejection fra... ORPHA:45452
Atrioventricular Dissociation
Congenital atrioventricular dissociation OMIM:209600
Brugada Syndrome 8
Ventricular tachycardia, Right bundle branch block, ST segment elevation OMIM:613123
Microcephaly With Cervical Spine Fusion Anomalies
Spinal instability, Vertebral fusion OMIM:251250
Familial Short Qt Syndrome
Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor... ORPHA:51083
Familial Progressive Cardiac Conduction Defect
Congestive heart failure, Heart block, Bundle branch block, Arrhythmia, Syncope ORPHA:871
Brugada Syndrome 5
ST segment elevation, Ventricular fibrillation, Bundle branch block OMIM:612838
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur... OMIM:610193
Long Qt Syndrome 16
Prolonged QTc interval, T-wave alternans, Second degree atrioventricular block, Bradycardia OMIM:618782
Atrial Standstill 1
Paroxysmal atrial fibrillation, Premature atrial contractions, Ventricular escape rhythm, First d... OMIM:108770
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG OMIM:178650
Cardiomyopathy, Dilated, 1Dd
Congestive heart failure, Left ventricular systolic dysfunction, Dilated cardiomyopathy, Sudden c... OMIM:613172
Muscular Dystrophy, Cardiac Type
Cardiomyopathy, Abnormal EKG OMIM:309930
Congenital Left Ventricular Aneurysm
Congestive heart failure, Abnormal T-wave, Arrhythmia, Abnormal ST segment ORPHA:1055
Short Qt Syndrome 2
Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde... OMIM:609621
Focal Myositis
Myositis, Limitation of joint mobility ORPHA:48918
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Cardiomyopathy, Familial Hypertrophic, 6
Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril... OMIM:600858
Short Qt Syndrome 3
Tachycardia, Palpitations, Shortened QT interval OMIM:609622
Mazabraud Syndrome
Fibrous dysplasia of the bones, Bone pain, Recurrent fractures ORPHA:57782
Left Ventricular Noncompaction 8
Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat... OMIM:615373
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... OMIM:600884
Catecholaminergic Polymorphic Ventricular Tachycardia
Palpitations, Atrial fibrillation, Supraventricular tachycardia, Ventricular fibrillation, Syncop... ORPHA:3286
Romano-Ward Syndrome
Torsade de pointes, Prolonged QTc interval, Sinus bradycardia, Ventricular arrhythmia, Syncope, S... ORPHA:101016
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Cardiac arrest, Premature ventricular contraction, Ventricular fibrillation, Syncope, Ventricular... OMIM:614916
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ... OMIM:612240
Cardiomyopathy, Dilated, 1E
Atrial flutter, Left bundle branch block, Reduced left ventricular ejection fraction, Atrial fibr... OMIM:601154
Long Qt Syndrome 8
Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope, Aborted sudden card... OMIM:618447
Brugada Syndrome 4
Syncope, Shortened QT interval, Atrial fibrillation OMIM:611876
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Myositis, Calf muscle hypertrophy, Skeletal muscle atrophy, Proximal muscle weakness in lower limbs ORPHA:565899
Multiple Synostoses Syndrome 2
Finger symphalangism, Tarsal synostosis, Proximal symphalangism, Humeroradial synostosis, Carpal ... OMIM:610017
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr... OMIM:616117
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, ST segment elevation, Hypertension, Prolonged PR interval OMIM:615378
Cardiomyopathy, Familial Hypertrophic, 8
Congestive heart failure, Reduced left ventricular ejection fraction, Palpitations, Restrictive c... OMIM:608751
Osteomesopyknosis
Sclerotic vertebral body, Abnormal cortical bone morphology, Abnormal form of the vertebral bodie... ORPHA:2777
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Asymmetric septal hypertrophy OMIM:192600
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Torsade de pointes, Left ventricular noncompaction cardiomyopathy, Ventricular fibrillation, Poly... OMIM:115000
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Cardiac arrest, Premature ventricul... OMIM:609040
Cardiomyopathy, Dilated, 1L
Congestive heart failure, Reduced left ventricular ejection fraction, Reduced systolic function, ... OMIM:606685
Cardiomyopathy, Dilated, 1Z
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death OMIM:611879
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Sick sinus syndrome, Ventricular couplet, Syncope, Effort-induced... OMIM:604772
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion OMIM:613702
Cardiomyopathy, Dilated, 2I
Dilated cardiomyopathy, Supraventricular tachycardia, Severely reduced left ventricular ejection ... OMIM:620462
Atrial Fibrillation, Familial, 15
Atrial fibrillation, Atrial flutter, Sudden cardiac death, Supraventricular tachycardia OMIM:615770
Cardiomyopathy, Dilated, 1G
Congestive heart failure, Reduced left ventricular ejection fraction, Atrial fibrillation, Premat... OMIM:604145
Papa Syndrome
Myositis, Arthritis, Crohn's disease, Limitation of joint mobility, Pustule, Acne, Increased infl... ORPHA:69126
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Sudden cardiac death, Paroxysmal ventricular tachycardia OMIM:192605
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Ventricular Fibrillation, Paroxysmal Familial, 1
Syncope, Ventricular fibrillation, Tachycardia OMIM:603829
Atrial Standstill
Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection... ORPHA:1344
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia, Bradycardia OMIM:611938
Long Qt Syndrome 15
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... OMIM:616249
Long Qt Syndrome 3
Torsade de pointes, Prolonged QTc interval, Ventricular flutter, Ventricular fibrillation, Syncop... OMIM:603830
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Left bundle branch block, Palpitations, Supraventri... OMIM:608758
Progressive Familial Heart Block, Type Ii
Syncope, Complete heart block with narrow QRS complexes, Sinus bradycardia, Atrioventricular bloc... OMIM:140400
Brugada Syndrome 2
Right bundle branch block, Ventricular fibrillation, Prolonged PR interval, Syncope, First degree... OMIM:611777
Glycogen Storage Disease Xv
Paroxysmal ventricular tachycardia, ST segment elevation, Right bundle branch block, Ventricular ... OMIM:613507
Ventricular Fibrillation, Paroxysmal Familial, 2
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction OMIM:612956
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Presyncope, Left bundle branch block, Palpitations, Premature ventricular contraction, Ventricula... OMIM:618920
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Congestive heart failure, Left bundle branch block, Ventricular arrhythmia, Increased left ventri... OMIM:601493
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies
Systolic anterior motion of the mitral valve, Reduced left ventricular endsystolic diameter, Left... OMIM:620236
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Shortened PR interval, Permanent a... OMIM:108950
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar... ORPHA:3282
Supravalvular Aortic Stenosis
Angina pectoris, Hypertension, Systolic heart murmur, Arrhythmia, Syncope, Supravalvular aortic s... ORPHA:3193
Spondylocostal Dysostosis 1, Autosomal Recessive
Kyphoscoliosis, Abnormal odontoid process morphology, Hemivertebrae, Vertebral segmentation defec... OMIM:277300
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Reduced left ventricular ... OMIM:613243
Sick Sinus Syndrome 3, Susceptibility To
Sick sinus syndrome OMIM:614090
Sinus Node Disease And Myopia
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin OMIM:182190
Cardiomyopathy, Dilated, 1A
Congestive heart failure, Atrial flutter, Atrial fibrillation, Sinus bradycardia, Ventricular arr... OMIM:115200
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Tarsal synostosis, Fused cervical vertebrae, Scoliosis, Antecubital pterygium, Flexion contractur... OMIM:618469
Cardiomyopathy, Familial Restrictive, 3
Reduced left ventricular ejection fraction, Abnormal ST segment, Restrictive cardiomyopathy, Hypo... OMIM:612422
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Reduced left ventricular ejection fraction, Palpitations, Atrial fibril... OMIM:613838
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Widening of cervical spinal canal, Fusion of midcervical facet joints, Nemaline bodies, Limb musc... OMIM:606842
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Muscular dystrophy, Scoliosis, Hyperlordosis, Calf muscle hypertrophy, Facial palsy, Kyphosis, EM... OMIM:606612
Cardiomyopathy, Dilated, 2B
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular e... OMIM:614672
Cardiomyopathy, Dilated, 1Bb
Congestive heart failure, Left bundle branch block, Severely reduced left ventricular ejection fr... OMIM:612877
Cardiomyopathy, Dilated, 1U
Congestive heart failure, Left bundle branch block, First degree atrioventricular block, Severely... OMIM:613694
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Immune-Mediated Necrotizing Myopathy
Myocarditis, Myositis, Skin rash, Scapular winging, EMG: myopathic abnormalities, Muscle fiber ne... ORPHA:206569
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Reduced left ventricular endsystolic diameter, Hypertrophic cardi... OMIM:612124
Sick Sinus Syndrome 2
Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P... OMIM:163800
Spondylocostal Dysostosis 6, Autosomal Recessive
Butterfly vertebrae, Scoliosis, Hemivertebrae, Spinal canal stenosis, Cervical kyphosis OMIM:616566
Progressive Familial Heart Block, Type Ia
Complete heart block with broad QRS complexes, Left anterior fascicular block, Left posterior fas... OMIM:113900
Cardiomyopathy, Dilated, 1D
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... OMIM:601494
Eosinophilic Fasciitis
Myositis, Arthritis, Muscular edema, Fasciitis ORPHA:3165
Cardiomyopathy, Familial Hypertrophic, 7
Atrial fibrillation, Apical hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Hypertro... OMIM:613690
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Familial Atrial Fibrillation
Atrial fibrillation, Palpitations, Syncope, Myocardial infarction ORPHA:334
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Cardiomyopathy, Familial Hypertrophic, 25
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy OMIM:607487
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve... OMIM:607450
Cardiomyopathy, Familial Hypertrophic, 26
Congestive heart failure, Left anterior fascicular block, Left bundle branch block, Atrial fibril... OMIM:617047
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Reduced left ventricular ejection fraction, Premature ventricular contr... OMIM:620247
Jervell And Lange-Nielsen Syndrome
Prolonged QTc interval, Ventricular fibrillation, Arrhythmia, Syncope, Torsade de pointes ORPHA:90647
Periodic Fever, Familial, Autosomal Dominant
Polyarticular arthritis, Bone pain, Myositis, Skin rash, Erysipelas, Conjunctivitis, Maculopapula... OMIM:142680
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Synostosis of carpals/tarsals OMIM:269630
Cardiomyopathy, Dilated, 1V
Congestive heart failure, Left bundle branch block, Reduced left ventricular ejection fraction, A... OMIM:613697
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Atrial arrhythmia, First degree atrioventricular block, Atrioventricular block, Absent P wave, Pa... OMIM:310300
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Bradycardia, Palpitations, Low-output congestive heart failure, Mildly red... ORPHA:66529
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Arrhythmia OMIM:618453
Attrv122I Amyloidosis
Abnormal atrioventricular conduction, Congestive heart failure, Reduced left ventricular ejection... ORPHA:85451
Cardiomyopathy, Dilated, 2F
Congestive heart failure, Increased left ventricular end-diastolic volume, Ventricular fibrillati... OMIM:619747
Proteasome-Associated Autoinflammatory Syndrome 4
Myositis, Panniculitis, Flexion contracture, Skeletal muscle atrophy OMIM:619183
Cardiomyopathy, Familial Hypertrophic, 11
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc... OMIM:612098
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Scoliosis, Abnormal sacrum morphology, Fused cervical vertebrae, Thoracic hemivertebrae ORPHA:1436
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Muscular dystrophy, Scoliosis, Hyperlordosis, Calf muscle hypertrophy, Macroglossia, Kyphosis, Ac... OMIM:607155
Graft Versus Host Disease
Gastrointestinal inflammation, Limited elbow movement, Dupuytren contracture, Inflammatory abnorm... ORPHA:39812
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Left ventricular outflow tract obstruction, Right bundle branch block, ... OMIM:613251
Spondylocostal Dysostosis 5
Butterfly vertebrae, Scoliosis, Hemivertebrae, Low back pain, Short neck, Vertebral fusion OMIM:122600
Left Ventricular Noncompaction 1
Congestive heart failure, Palpitations, Atrial fibrillation, Noncompaction cardiomyopathy, Left v... OMIM:604169
Atrial Septal Defect, Sinus Venosus Type
Congestive heart failure, Atrial flutter, Atrial fibrillation, Supraventricular arrhythmia, Supra... ORPHA:99105
Idiopathic Camptocormia
Fatty replacement of skeletal muscle, Abnormal intervertebral disk morphology, Myelitis, Myositis... ORPHA:1320
Atrial Fibrillation, Familial, 12
Paroxysmal atrial fibrillation OMIM:614050
Atrial Fibrillation, Familial, 1
Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 5
Atrial fibrillation OMIM:611494
Atrial Fibrillation, Familial, 2
Atrial fibrillation OMIM:608988
Atrial Fibrillation, Familial, 8
Atrial fibrillation OMIM:613055
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Short neck, Abnormal vertebral segmentation and fu... ORPHA:66637
Pyoderma Gangrenosum
Rheumatoid arthritis, Inflammation of the large intestine, Pustule, Myositis ORPHA:48104
Cardiomyopathy, Dilated, 1R
Congestive heart failure, Restrictive cardiomyopathy, Ventricular arrhythmia, Increased left vent... OMIM:613424
Cardiomyopathy, Familial Hypertrophic, 20
Atrial fibrillation, Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction OMIM:613876
Monosodium Glutamate Sensitivity
Palpitations OMIM:231630
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Congestive heart failure, Atrial flutter, Heart block, Atrial fibrillation, Supraventricular tach... ORPHA:300751
Isolated Klippel-Feil Syndrome
Cervical C2/C3 vertebral fusion, Abnormality of the vertebral column, Congenital muscular tortico... ORPHA:2345
Coronary Arterial Fistula
Congestive heart failure, Tachycardia, Angina pectoris, Elevated jugular venous pressure, Pulmona... ORPHA:2041
Mixed Connective Tissue Disease
Myocarditis, Keratoconjunctivitis sicca, Gastritis, Avascular necrosis, Myositis, Arthritis, Skin... ORPHA:809
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Familial Isolated Dilated Cardiomyopathy
Congestive heart failure, Left ventricular systolic dysfunction, Dilated cardiomyopathy, Arrhythmia ORPHA:154
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Scoliosis, Fused cervical vertebrae, Thoracic hemivertebrae, Prominent metopic ridge OMIM:309620
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, ST segment elevation, Right bundle branch block, Cardiomyopathy, Ventricular fibril... ORPHA:263297
Leber Hereditary Optic Neuropathy
Ventricular preexcitation, Retinal telangiectasia, Arrhythmia ORPHA:104
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Cervical spinal canal stenosis, Popliteal pterygium, Tarsal synostosis, Spondylolisthesis, Multip... OMIM:178110
Atrial Standstill 2
Bradycardia, Cardiomyopathy, Atrial arrhythmia, Absent P wave, Palpitations, Atrial cardiomyopath... OMIM:615745
Sting-Associated Vasculopathy, Infantile-Onset
Nail dystrophy, Malar rash, Myositis, Skin rash, Pustular rash, Joint stiffness, Pustule, Skeleta... OMIM:615934
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Right bundle branch block, Atrioventricular block, Atrioventric... OMIM:614954
Ebstein Anomaly
Atrial fibrillation, Right bundle branch block, Ventricular preexcitation, Sudden cardiac death, ... OMIM:224700
Chronic Atrial And Intestinal Dysrhythmia
Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial fibrillation, Pulmonic stenosis, Ventric... OMIM:616201
Brachydactyly, Type B1
Joint contracture of the hand, Hypoplastic sacrum, Delayed cranial suture closure, Hemivertebrae,... OMIM:113000
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Sacral dimple, Vertebral fusion, Vertebral segmentation defect OMIM:618845
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
First degree atrioventricular block, Ventricular tachycardia, Left bundle branch block OMIM:615616
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Hypertrophic cardiomyopathy, A... OMIM:612158
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, Arrhythmia, Pulmonary embolism ORPHA:1345
Cardiogenic Shock
Congestive heart failure, Abnormal left ventricular function, Low-output congestive heart failure... ORPHA:97292
Antisynthetase Syndrome
Myocarditis, Joint dislocation, Myositis, Arthritis, Skin rash, Keratoconjunctivitis sicca ORPHA:81
Klippel-Feil Syndrome 2, Autosomal Recessive
Fused cervical vertebrae, Cervical C2/C3 vertebral fusion, Scoliosis, Low posterior hairline, Sho... OMIM:214300
Dystonia 23
Arrhythmia OMIM:614860
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Angina pectoris, Atrial fibrillation, Hypertrophic cardiomyopathy, Ventricular tach... OMIM:613873
Spondylocostal Dysostosis 3, Autosomal Recessive
Supernumerary vertebral ossification centers, Scoliosis, Vertebral segmentation defect, Kyphosis,... OMIM:609813
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG ORPHA:1177
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Paroxysmal ventricular tachycardia, Right bundle branch block, Tricuspid re... OMIM:619897
Cardiomyopathy, Familial Hypertrophic, 27
Congestive heart failure, Prolonged QT interval, Concentric hypertrophic cardiomyopathy, Cardiac ... OMIM:618052
Proteasome-Associated Autoinflammatory Syndrome 3
Panniculitis, Myositis, Arthritis, Skin rash, Sinusitis, Flexion contracture, Conjunctivitis OMIM:617591
Cardiomyopathy, Familial Hypertrophic, 2
Reduced left ventricular ejection fraction, Angina pectoris, Atrial fibrillation, Right bundle br... OMIM:115195
Genetic Recurrent Myoglobinuria
Proximal muscle weakness in upper limbs, Abnormality of jaw muscles, Myositis, Viral infection-in... ORPHA:99845
Keratoconus Posticus Circumscriptus
Short neck, Limited elbow extension and supination, Abnormal vertebral segmentation and fusion OMIM:244600
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Arrhythmia OMIM:616198
Peripartum Cardiomyopathy
Myocarditis, Congestive heart failure, Left ventricular systolic dysfunction, Left bundle branch ... ORPHA:563
Atrial Septal Defect, Ostium Primum Type
Congestive heart failure, Atrial flutter, Right-to-left shunt, Third heart sound, Atrial fibrilla... ORPHA:99106
Tropical Endomyocardial Fibrosis
P pulmonale, Abnormal ST segment, Prolonged QRS complex, Pulmonary venous hypertension, Elevated ... ORPHA:75565
Loeffler Endocarditis
Congestive heart failure, Aortic regurgitation, Palpitations, Restrictive cardiomyopathy, Right b... ORPHA:75566
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Cervical C2/C3 vertebral fusion, Nemaline bodies, Low posterior hairline, Thoracolumbar scoliosis... OMIM:616549
Acrodysplasia Scoliosis
Scoliosis, Vertebral segmentation defect, Spina bifida occulta ORPHA:2956
Bacterial Toxic-Shock Syndrome
Myocarditis, Pneumonia, Myositis, Arthritis, Skin rash, Hepatitis, Sinusitis, Peritonitis, Infect... ORPHA:36234
Wild Type Attr Amyloidosis
Congestive heart failure, Bradycardia, Atrial fibrillation, Hypertrophic cardiomyopathy, Aortic v... ORPHA:330001
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Congenital muscular torticollis, Scoliosis, Hemivertebrae,... ORPHA:2916
Sudden Cardiac Failure, Infantile
Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Sudden cardiac d... OMIM:617222
Congenital Myopathy 5 With Cardiomyopathy
Congestive heart failure, Arrhythmia, Severely reduced left ventricular ejection fraction, Atriov... OMIM:611705
Pediatric Systemic Lupus Erythematosus
Malar rash, Arthritis, Skin rash, Discoid lupus rash, Myositis, Nephritis, Alopecia ORPHA:93552
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Nail dystrophy, Gastritis, Myositis, Thyroiditis, Alopecia, Tubulointerstitial nephritis, Eczemat... ORPHA:37042
Naxos Disease
Congestive heart failure, Right ventricular cardiomyopathy, Paroxysmal ventricular tachycardia, P... OMIM:601214
Liddle Syndrome
Hypertension, Cerebral ischemia, Arrhythmia ORPHA:526
Naxos Disease
Congestive heart failure, Paroxysmal ventricular tachycardia, Cardiomyopathy, Arrhythmia, Sudden ... ORPHA:34217
Atrial Septal Defect, Ostium Secundum Type
Congestive heart failure, Atrial flutter, Abnormal left ventricular function, Increased pulmonary... ORPHA:99103
Kbg Syndrome
Scoliosis, Thoracic kyphosis, Synophrys, Persistent open anterior fontanelle, Delayed skeletal ma... ORPHA:2332
Kniest Dysplasia
Fused cervical vertebrae, Platyspondyly, Delayed epiphyseal ossification, Vertebral wedging, Arth... ORPHA:485
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Congestive heart failure, Third heart sound, Elevated jugular... ORPHA:1329
Atrial Fibrillation, Familial, 10
Paroxysmal atrial fibrillation, Atrial flutter, Bradycardia, Permanent atrial fibrillation, Tricu... OMIM:614022
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Limitation of joint mobility, Synostosis of carpal bones, Elbow d... ORPHA:90650
Idiopathic/Heritable Pulmonary Arterial Hypertension
Abnormal cardiovascular system physiology, Elevated jugular venous pressure, Pulmonary arterial h... ORPHA:422
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Myositis, Arthritis, Skin rash, Sinusitis, Endocarditis, Increased inflammatory resp... ORPHA:183
Propionic Acidemia
Cardiomyopathy, Arrhythmia ORPHA:35
Fusariosis
Panniculitis, Maculopapular exanthema, Myositis, Arthritis, Bronchiectasis, Sinusitis, Keratitis,... ORPHA:228119
Symmetrical Thalamic Calcifications
Arrhythmia ORPHA:1314
Spondylocostal Dysostosis 2, Autosomal Recessive
Short neck, Hemivertebrae, Vertebral clefting, Vertebral segmentation defect OMIM:608681
Multiple Pterygium Syndrome, X-Linked
Multiple pterygia, Joint dislocation, Amyoplasia, Abnormal cervical curvature, Vertebral fusion, ... OMIM:312150
Whipple Disease
Myocarditis, Myositis, Arthritis, Pericarditis, Infectious encephalitis, Uveitis ORPHA:3452
Developmental And Speech Delay Due To Sox5 Deficiency
Butterfly vertebrae, Scoliosis, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Vertebral fusion ORPHA:313892
Congenital Aortic Valve Stenosis
Reduced left ventricular ejection fraction, Angina pectoris, Abnormal pulse pressure, Aortic valv... ORPHA:3093
Wildervanck Syndrome
Facial palsy, Short neck, Fused cervical vertebrae, Low posterior hairline ORPHA:3456
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Left anterior fascicular block, Reduced left ventricular ejection fraction, Arrhythmia, Syncope, ... OMIM:181350
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Congestive heart failure, Fourth heart sound, Right axis deviation, Elevated jugular venous press... OMIM:255160
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Congenital muscular torticollis, Scoliosis, Low posterior hairli... OMIM:118100
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Muscular dystrophy, Myositis, Scoliosis, Hyperlordosis, Facial palsy, Muscle fiber atrophy, Flexi... ORPHA:258
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal bone ossification, Reduced bone mineral density, Biconvex vertebral bodies, Biconcave ve... ORPHA:93315
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Arrhythmia ORPHA:1808
Myasthenia Gravis
Rheumatoid arthritis, Hashimoto thyroiditis, Myositis, Hepatitis ORPHA:589
Sweet Syndrome
Panniculitis, Myositis, Acne inversa, Predominantly dermal neutrophilic infiltrate, Inflammation ... ORPHA:3243
Erythrokeratodermia Variabilis Et Progressiva 6
Arrhythmia OMIM:618531
Multiple Pterygium Syndrome, Lethal Type
Multiple pterygia, Joint dislocation, Amyoplasia, Abnormal cervical curvature, Vertebral fusion, ... OMIM:253290
Spondylocostal Dysostosis 4, Autosomal Recessive
Abnormal odontoid process morphology, Spina bifida occulta, Scoliosis, Hemivertebrae, Vertebral s... OMIM:613686
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Myositis, Arthritis, Skin rash, Abnormal sacroiliac joint morphology, Pericarditis, Erysipelas, O... ORPHA:32960
Pulmonary Hypertension, Primary, 4
Elevated pulmonary artery pressure, Atrial flutter, Pulmonary arterial hypertension with lack of ... OMIM:615344
Microsporidiosis
Myocarditis, Prostatitis, Pancreatitis, Cholangitis, Myositis, Thyroiditis, Keratoconjunctivitis,... ORPHA:2552
Congenital Heart Block
Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhythm, Abnormal heart valv... ORPHA:60041
Muscular Dystrophy, Duchenne Type
Congestive heart failure, Cardiomyopathy, Arrhythmia, Dilated cardiomyopathy, Abnormal EKG OMIM:310200
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Arrhythmia ORPHA:99944
Attrv30M Amyloidosis
Atrioventricular block, Cardiomyopathy, Arrhythmia ORPHA:85447
Frontometaphyseal Dysplasia 1
Limited elbow movement, Cervical C2/C3 vertebral fusion, Dislocated radial head, Wrist flexion co... OMIM:305620
Andersen-Tawil Syndrome
Torsade de pointes, Polymorphic ventricular tachycardia, Prolonged QT interval, Prominent U wave,... ORPHA:37553
Thymoma
Rheumatoid arthritis, Myositis, Ulcerative colitis, Glomerulonephritis ORPHA:99867
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Tachycardia, Syncope, Premature ventricular contraction OMIM:192445
Fibrodysplasia Ossificans Progressiva
Ectopic ossification in tendon tissue, Scoliosis, Ectopic ossification in ligament tissue, Ectopi... OMIM:135100
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Periostitis, Fused cervical vertebrae, Stomatitis, Skin rash, Pustule, Osteolysis, Jo... OMIM:612852
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin OMIM:609438
Alkaptonuria
Limitation of knee mobility, Intervertebral disk degeneration, Arthritis, Arthropathy, Kyphosis, ... OMIM:203500
Spinocerebellar Ataxia, Autosomal Recessive 23
Arrhythmia OMIM:616949
Juvenile Dermatomyositis
Calcinosis, Myositis, Arthritis, Skin rash, Limitation of joint mobility, Pericarditis, Alopecia ORPHA:93672
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Sick sinus syndrome, Bradycardia, Ventricular escape rhythm, Arrhythmia, Prolonged PR interval ORPHA:542306
Hemangioma-Thrombocytopenia Syndrome
Ventricular arrhythmia OMIM:141000
Verheij Syndrome
Scoliosis, Hemivertebrae, Joint hypermobility, Short neck, Hip dislocation, Vertebral fusion OMIM:615583
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Congestive heart failure, Wolff-Parkinson-White syndrome, Hypertension, Arrhythmia, Abnormal left... OMIM:540000
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Minimal change glomerulonephritis, Myositis, Scoliosis, Eczematoid dermatitis, Hepatitis OMIM:620565
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Cardiomyopathy, Arrhythmia OMIM:612999
Aarskog-Scott Syndrome
High anterior hairline, Genu recurvatum, Camptodactyly of finger, Joint hypermobility, Short neck... ORPHA:915
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Generalized joint hypermobility, Cervical C2/C3 vertebral fusion, Shoulder dislocatio... OMIM:618000
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypertension, Cardiomyopathy, Arrhythmia ORPHA:3222
Ring Chromosome 21 Syndrome
Scoliosis, Thoracic hemivertebrae, Fused thoracic vertebrae ORPHA:1445
Cardiomyopathy, Dilated, 1Y
Congestive heart failure, Increased left ventricular end-diastolic volume, Atrial fibrillation, L... OMIM:611878
Pyomyositis
Myositis, Recurrent cutaneous abscess formation ORPHA:764
Hemochromatosis, Type 2A
Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Arrhythmia OMIM:602390
Danon Disease
Congestive heart failure, Wolff-Parkinson-White syndrome, Atrial arrhythmia, Hypertrophic cardiom... OMIM:300257
Mahvash Disease
Palpitations OMIM:619290
Behçet Disease
Pancreatitis, Recurrent aphthous stomatitis, Avascular necrosis, Myositis, Arthritis, Optic neuri... ORPHA:117
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypertension, Epistaxis, Intracranial hemorrhage, Palpitations, Abnormal T-wave ORPHA:231625
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Arrhythmia OMIM:616516
Myopathy, X-Linked, With Postural Muscle Atrophy
Hypertrophic cardiomyopathy, Arrhythmia OMIM:300696
Spondylocarpotarsal Synostosis Syndrome
Limited elbow extension, Tarsal synostosis, Scoliosis, Hyperlordosis, Vertebral segmentation defe... OMIM:272460
Hypotrichosis And Recurrent Skin Vesicles
Abnormal EKG OMIM:613102
Lateral Meningocele Syndrome
Scoliosis, Wormian bones, Kyphosis, Biconcave vertebral bodies, Decreased muscle mass, Sclerosis ... OMIM:130720
Myofibrillar Myopathy 10
Increased QRS voltage, Prolonged QTc interval OMIM:619040
Ebstein Malformation Of The Tricuspid Valve
Congestive heart failure, Atrial fibrillation, Right bundle branch block, Cerebral ischemia, Arrh... ORPHA:1880
Multiple Pterygium Syndrome, Escobar Variant
Congenital diaphragmatic hernia, Dislocated radial head, Kyphosis, Hip dislocation, Axillary pter... OMIM:265000
Glycogen Storage Disease Of Heart, Lethal Congenital
Congestive heart failure, Bradycardia, ST segment elevation, Cardiomyopathy, Hypotension, Hypertr... OMIM:261740
Caudal Regression Syndrome
Aplasia/Hypoplasia of the sacrum, Scoliosis, Joint stiffness, Hypoplastic vertebral bodies, Decre... ORPHA:3027
Cardiomyopathy, Familial Hypertrophic, 4
Congestive heart failure, Left bundle branch block, Reduced left ventricular ejection fraction, R... OMIM:115197
Cirrhotic Cardiomyopathy
Elevated pulmonary artery pressure, Congestive heart failure, Fourth heart sound, Prolonged QT in... ORPHA:57777
Acquired Aneurysmal Subarachnoid Hemorrhage
Congestive heart failure, Ischemic stroke, Prolonged QTc interval, Hypertension, Cerebral ischemi... ORPHA:90065
Primary Sjögren Syndrome
Arteritis, Chronic active hepatitis, Myositis, Arthritis, Polyarticular arthropathy, Thyroiditis,... ORPHA:289390
Congenital Muscular Dystrophy Due To Lmna Mutation
Congestive heart failure, Arrhythmia ORPHA:157973
Larsen Syndrome
Beaking of vertebral bodies, Multiple carpal ossification centers, Spondylolysis, Spina bifida oc... OMIM:150250
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal QRS complex, Congestive heart failure, Abnormality of blood circulation, Left ventricula... ORPHA:860
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Short neck, Hyperlordosis, Fused cervical vertebrae, Kyphosis ORPHA:2522
Friedreich Ataxia
Congestive heart failure, Abnormal EKG, Hypertrophic cardiomyopathy OMIM:229300
Arterial Calcification, Generalized, Of Infancy, 2
Congestive heart failure, Reduced left ventricular ejection fraction, Sinus tachycardia, Hyperten... OMIM:614473
Acquired Methemoglobinemia
Syncope, Palpitations, Arrhythmia, Tachycardia ORPHA:464453
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Beaking of vertebral bodies, Sacral dimple, Recurrent otitis media, Highly arched eyebrow, Hypere... OMIM:213980
Shashi-Pena Syndrome
Cervical C2/C3 vertebral fusion, Limb hypertonia, Highly arched eyebrow, Scoliosis, Osteoporosis,... OMIM:617190
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Heart block, Premature ventricular contraction ORPHA:1964
3-Methylglutaconic Aciduria, Type V
Congestive heart failure, Prolonged QT interval, Noncompaction cardiomyopathy, Dilated cardiomyop... OMIM:610198
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Arrhythmia ORPHA:2928
Atrial Septal Defect, Coronary Sinus Type
Presyncope, Increased pulmonary vascular resistance, Supraventricular arrhythmia, Transient ische... ORPHA:99104
Koolen-De Vries Syndrome
Hypopigmentation of hair, Scoliosis, Vertebral segmentation defect, Abnormality of hair texture, ... ORPHA:96169
Cardiac Valvular Dysplasia 2
Pulmonary insufficiency, Aortic regurgitation, Palpitations, Tricuspid regurgitation, Pulmonic st... OMIM:620067
Koolen-De Vries Syndrome
Sacral dimple, Spondylolisthesis, Scoliosis, Abnormality of hair texture, Kyphosis, Prominent met... OMIM:610443
Familial Idiopathic Dilatation Of The Right Atrium
Paroxysmal atrial fibrillation, Reduced left ventricular ejection fraction, Abnormal cardiac vent... ORPHA:1677
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Upper limb muscle weakness, Recurrent otitis media, Cervical C2/C3 vertebral fusion ORPHA:370010
Dermatomyositis
Myocarditis, Inflammatory myopathy, Myositis, Arthritis, Skin rash, Abnormal hair quantity, EMG: ... ORPHA:221
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Mildly reduced left ventricular ejection fraction, Arrhythmia OMIM:618098
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Lacunar stroke, Supraventricular arrhythmia, Raynaud phenomenon, Retinal hemorrhage OMIM:611773
Familial Isolated Restrictive Cardiomyopathy
Atrial fibrillation, Supraventricular arrhythmia, Tricuspid regurgitation, Hypertrophic cardiomyo... ORPHA:75249
Idiopathic Pulmonary Arterial Hypertension
Elevated pulmonary artery pressure, Congestive heart failure, Pulmonary arterial hypertension, Tr... ORPHA:275766
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Scoliosis, Hemivertebrae, Block vertebrae, Short neck, Supernumerary vertebrae, Vertebral fusion OMIM:271520
Aicardi-Goutières Syndrome
Panniculitis, Myositis, Arthritis, Scoliosis, Chilblains, Multiple joint contractures ORPHA:51
Al Amyloidosis
Gastrointestinal hemorrhage, Hypertrophic cardiomyopathy, Jaw claudication, Abnormal P wave, Arrh... ORPHA:85443
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Palpitations OMIM:188580
Timothy Syndrome
Prolonged QT interval, Bradycardia, Pulmonary arterial hypertension, Atrioventricular block, Vent... OMIM:601005
Chromosome 8Q22.1 Duplication Syndrome
Cubitus valgus, Cervical C2/C3 vertebral fusion, Genu recurvatum, Limitation of joint mobility, J... OMIM:151200
Polyvalvular Heart Disease Syndrome
Pulmonic stenosis, Aortic valve stenosis, Tricuspid regurgitation, Arrhythmia ORPHA:228410
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Cardiac arrest, Arrhythmia ORPHA:168593
Stapes Ankylosis With Broad Thumbs And Toes
Proximal/middle symphalangism of 5th finger, Fused cervical vertebrae OMIM:184460
Cardiac Diverticulum
Congestive heart failure, Angina pectoris, Tricuspid stenosis, Premature ventricular contraction,... ORPHA:1686
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Joint hypermobility, Cervical C2/C3 vertebral fusion, Camptodactyly OMIM:617333
Neonatal Lupus Erythematosus
Heart block, Prolonged QT interval, Arrhythmia, Atrioventricular block, Dilated cardiomyopathy, A... ORPHA:398124
Wild Type Abeta2M Amyloidosis
Congestive heart failure, Gastrointestinal hemorrhage, Arrhythmia ORPHA:85446
Lamb-Shaffer Syndrome
Scoliosis, Thoracic kyphosis, Fused cervical vertebrae ORPHA:530983
Chronic Thromboembolic Pulmonary Hypertension
Congestive heart failure, Increased pulmonary vascular resistance, Right bundle branch block, Pul... ORPHA:70591
Hemochromatosis, Type 4
Cardiomyopathy, Arrhythmia OMIM:606069
Interatrial Communication
Congestive heart failure, Atrial flutter, Right axis deviation, Atrial fibrillation, Right bundle... ORPHA:1478
Heart Block, Congenital
Absent atrioventricular node, Cardiomyopathy, Atrial arrhythmia, Atrioventricular block, Mitral r... OMIM:234700
Pseudohypoparathyroidism Type 2
Prolonged QT interval ORPHA:94090
Carnitine Palmitoyl Transferase 1A Deficiency
Sudden cardiac death, Hypertrophic cardiomyopathy, Arrhythmia ORPHA:156
Dopamine Beta-Hydroxylase Deficiency
Syncope, Orthostatic hypotension, Abnormal EKG, Orthostatic syncope ORPHA:230
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Prolonged QT interval, Abnormal EKG, Arrhythmia ORPHA:480864
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Congestive heart failure, Aortic regurgitation, Left ventricular ... ORPHA:3092
Thrombotic Thrombocytopenic Purpura
Myocardial infarction, Arrhythmia ORPHA:54057
Spontaneous Periodic Hypothermia
Arrhythmia ORPHA:29822
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Right bundle branch block, Abnormal EKG, Reduced left ventricular ejection fraction ORPHA:268
Cardiomyopathy, Dilated, 1S
Congestive heart failure, Reduced left ventricular ejection fraction, Pulmonary arterial hyperten... OMIM:613426
Frontometaphyseal Dysplasia
Limited elbow movement, Limitation of knee mobility, Fused cervical vertebrae, Spina bifida occul... ORPHA:1826
Typhoid
Gastrointestinal hemorrhage, Cardiac arrest, Epistaxis, Arrhythmia ORPHA:99745
Mosaic Trisomy 20
Fused cervical vertebrae, Scoliosis, Vertebral segmentation defect, Kyphosis, Spinal canal stenos... ORPHA:1724
Rett Syndrome
Prolonged QTc interval, Abnormal T-wave OMIM:312750
Igg4-Related Dacryoadenitis And Sialadenitis
Keratoconjunctivitis sicca, Myositis, Thyroiditis, Abnormality of the extraocular muscles, Tubulo... ORPHA:79078
Dextrocardia
T-wave inversion, Abnormal EKG ORPHA:1666
Recessive Mitochondrial Ataxia Syndrome
ST segment elevation ORPHA:94125
Otopalatodigital Syndrome Type 2
Tarsal synostosis, Increased bone mineral density, Scoliosis, Synostosis of carpal bones, Camptod... ORPHA:90652
Intellectual Developmental Disorder, Autosomal Dominant 52
Cervical C2/C3 vertebral fusion, Scapular winging, Synophrys, Lumbar scoliosis, Low anterior hair... OMIM:617796
Spinocerebellar Ataxia, Autosomal Recessive 33
Arrhythmia OMIM:620208
Absence Of The Pulmonary Artery
Congestive heart failure, Atrial flutter, Reduced left ventricular ejection fraction, Atrial fibr... ORPHA:980
Congenital Sialidosis Type 2
Abnormal EKG, Telangiectasia ORPHA:93400
Tetrasomy 9P
Sacral dimple, Joint dislocation, Myositis, Arthritis, Pericarditis, Short neck, Glue ear ORPHA:3310
Familial Hyperaldosteronism Type Iii
Hypertension, Prolonged QT interval, Epistaxis, Intracranial hemorrhage ORPHA:251274
Hec Syndrome
Cardiomyopathy, Arrhythmia ORPHA:2119
Congenitally Corrected Transposition Of The Great Arteries
Bradycardia, Pulmonic stenosis, Arrhythmia, Heart murmur, Mobitz I atrioventricular block, Aortic... ORPHA:216694
Mayer-Rokitansky-Küster-Hauser Syndrome
Abnormal sacrum morphology, Vertebral segmentation defect, Vertebral fusion, Abnormal form of the... ORPHA:3109
Robinow Syndrome, Autosomal Recessive 1
Hypoplastic sacrum, Sacral dimple, Dislocated radial head, Scoliosis, Hemivertebrae, Proximal/mid... OMIM:268310
Basal Cell Nevus Syndrome 1
Kyphoscoliosis, Vertebral wedging, Scoliosis, Hemivertebrae, Irregular ossification of hand bones... OMIM:109400
Dk1-Cdg
Congestive heart failure, Dilated cardiomyopathy, Arrhythmia ORPHA:91131
Kbg Syndrome
Thoracic kyphosis, Low posterior hairline, Synophrys, Delayed skeletal maturation, Low anterior h... OMIM:148050
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Prolonged QT interval OMIM:615351
Polymyositis
Abnormal atrioventricular conduction, Congestive heart failure, Gastrointestinal hemorrhage, Vasc... ORPHA:732
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Arrhythmia ORPHA:230839
Myhre Syndrome
Enlarged vertebral pedicles, Skeletal muscle hypertrophy, Limitation of joint mobility, Camptodac... OMIM:139210
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Butterfly vertebrae, Fused cervical vertebrae, Spina bifida occulta, Low posterior hairline, Hype... OMIM:619227
Gorlin Syndrome
Abnormal vertebral morphology, Vertebral wedging, Scoliosis, Hemivertebrae, Vertebral fusion ORPHA:377
Mitochondrial Dna Depletion Syndrome 11
Dilated cardiomyopathy, Arrhythmia OMIM:615084
Familial Isolated Hypoparathyroidism
Arrhythmia ORPHA:2238
Arnold-Chiari Malformation Type I
Stiff neck, Fused cervical vertebrae, Cervical C2/C3 vertebral fusion, Abnormality of the muscula... ORPHA:268882
Car T Cell Therapy-Associated Cytokine Release Syndrome
Heart block, Reduced left ventricular ejection fraction, Capillary leak, Hypotension, Arrhythmia,... ORPHA:542323
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiomyopathy, Arrhythmia OMIM:249270
Singleton-Merten Syndrome 2
Aortic valve stenosis, Arrhythmia OMIM:616298
Autoimmune Hypoparathyroidism
Ventricular arrhythmia, Abnormal left ventricular function, Prolonged QT interval ORPHA:36913
Heart-Hand Syndrome Type 2
Arrhythmia ORPHA:1350
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Ventricular fibrillation, Atrioventricular block, Arrhythmia, Tachycardia,... ORPHA:26793
Familial Multiple Nevi Flammei
Pulmonary embolism, Intracranial hemorrhage, Arrhythmia ORPHA:624
Leber Optic Atrophy
Arrhythmia OMIM:535000
Refsum Disease, Classic
Congestive heart failure, Cardiomyopathy, Arrhythmia OMIM:266500
American Trypanosomiasis
Myocarditis, Congestive heart failure, Cardiomyopathy, Arrhythmia ORPHA:3386
Duane Retraction Syndrome
Spina bifida occulta, Abnormal form of the vertebral bodies, Camptodactyly, Low posterior hairlin... ORPHA:233
Thrombocytopenia-Absent Radius Syndrome
Fused cervical vertebrae, Aplasia/Hypoplasia of the patella, Scoliosis, Patellar dislocation, Gen... ORPHA:3320
Thakker-Donnai Syndrome
Congenital diaphragmatic hernia, Short neck, Hemivertebrae, Cervical C2/C3 vertebral fusion ORPHA:1780
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dilated cardiomyopathy, Arrhythmia ORPHA:352447
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Arrhythmia, Cardiomyopathy, Bradycardia OMIM:609286
Scorpion Envenomation
Myocarditis, Congestive heart failure, Prominent U wave, Hypertension, Premature ventricular cont... ORPHA:466677
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Arrhythmia OMIM:273400
Ataxia With Vitamin E Deficiency
Hypertrophic cardiomyopathy, Arrhythmia ORPHA:96
Lyme Disease
Atrioventricular block, Arrhythmia ORPHA:91546
Systemic Capillary Leak Syndrome
Myocarditis, Pericarditis, Hypotension, Arrhythmia ORPHA:188
Cocaine Intoxication
Ischemic stroke, Prolonged QT interval, Supraventricular arrhythmia, Hypertension, Hypotension, H... ORPHA:90068
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythmia ORPHA:1194
Andersen Cardiodysrhythmic Periodic Paralysis
Prolonged QT interval, Prominent U wave, Prolonged QTc interval, Syncope, Palpitations, Bidirecti... OMIM:170390
Hemochromatosis, Type 1
Congestive heart failure, Arrhythmia, Cardiomyopathy, Telangiectasia OMIM:235200
Infantile Refsum Disease
Cardiomyopathy, Arrhythmia ORPHA:772
Simpson-Golabi-Behmel Syndrome
Congenital diaphragmatic hernia, Scoliosis, Vertebral segmentation defect, Congenital hip disloca... ORPHA:373
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Right axis deviation, Sinus tachycardia, Subarachnoid hemorrhage,... OMIM:232300
Chops Syndrome
Cervical C2/C3 vertebral fusion, Thick hair, Tracheomalacia, Aspiration pneumonia, Curly hair, Lo... OMIM:616368
Apert Syndrome
Chronic otitis media, Limited elbow movement, Lambdoidal craniosynostosis, Delayed epiphyseal oss... OMIM:101200
Fanconi Anemia, Complementation Group I
Short neck, Fused cervical vertebrae OMIM:609053
Microphthalmia, Syndromic 3
Butterfly vertebrae, Hemivertebrae, Vertebral hypoplasia, Vertebral fusion OMIM:206900
Histiocytoid Cardiomyopathy
Congestive heart failure, Wolff-Parkinson-White syndrome, Atrial flutter, Atrial fibrillation, Su... ORPHA:137675
Duane-Radial Ray Syndrome
Pectoralis hypoplasia, Fused cervical vertebrae, Spina bifida occulta, Shoulder dislocation, Scol... OMIM:607323
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Arrhythmia, Ventricular bigeminy, Left bundle branch block OMIM:610131
Frontometaphyseal Dysplasia 2
Fused cervical vertebrae, Dislocated radial head, Scoliosis, Hirsutism, Camptodactyly, Congenital... OMIM:617137
Faciodigitogenital Syndrome, Autosomal Recessive
Widow's peak, Hyperextensible hand joints, Camptodactyly, Vertebral fusion OMIM:227330
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Arrhythmia ORPHA:3201
Fabry Disease
Congestive heart failure, Angina pectoris, Hypertension, Transient ischemic attack, Arrhythmia, M... OMIM:301500
Acro-Renal-Ocular Syndrome
Vertebral segmentation defect, Radial club hand, Vertebral fusion ORPHA:959
Gitelman Syndrome
Prolonged QT interval, Prominent U wave, Low-to-normal blood pressure, ST segment depression, Ven... ORPHA:358
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Shoulder subluxation, Fused cervical vertebrae, Thoracic kyphosis, Hypermobility of interphalange... ORPHA:508498
Sifrim-Hitz-Weiss Syndrome
Wormian bones, Fused cervical vertebrae, Flat acetabular roof OMIM:617159
Subaortic Stenosis-Short Stature Syndrome
Arrhythmia ORPHA:3191
Isolated Atp Synthase Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Arrhythmia ORPHA:254913
Wolf-Hirschhorn Syndrome
Sacral dimple, Abnormal sternal ossification, Abnormal form of the vertebral bodies, Highly arche... OMIM:194190
Hydrops Fetalis
Capillary leak, Arrhythmia ORPHA:1041
Kearns-Sayre Syndrome
Arrhythmia, Cardiomyopathy, Third degree atrioventricular block OMIM:530000
Glycogen Storage Disease Due To Aldolase A Deficiency
Arrhythmia ORPHA:57
Barth Syndrome
Congestive heart failure, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Arrhythmia, Incre... OMIM:302060
Atelosteogenesis, Type I
Thoracic platyspondyly, Fused cervical vertebrae, Vertebral hypoplasia, Coronal cleft vertebrae, ... OMIM:108720
Aicardi Syndrome
Butterfly vertebrae, Scoliosis, Hemivertebrae, Sparse lateral eyebrow, Recurrent pneumonia, Block... OMIM:304050
Alternating Hemiplegia Of Childhood
Cardiac conduction abnormality, Cardiomyopathy, Arrhythmia, Abnormal T-wave ORPHA:2131
Congenital Heart Defects, Multiple Types, 9
Pulmonic stenosis, Left axis deviation OMIM:620294
Noonan Syndrome 5
Pulmonic stenosis, Hypertrophic cardiomyopathy, Arrhythmia OMIM:611553
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Pulmonic stenosis, Paroxysmal supraventricular tachycardia, Arrhythmia OMIM:617877
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, Sinus tachycardia, Abnormal pulse pressure, Hypotension, ST segment depres... ORPHA:466650
Generalized Pseudohypoaldosteronism Type 1
Hypovolemic shock, Arrhythmia ORPHA:171876
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Prolonged QTc interval, Cardiac arrest, Hypertrophic cardiomyopathy, Ventricular fibrillation, Ve... OMIM:616878
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Telangiectasia of the skin, Cerebral ischemia, Arrhythmia ORPHA:60040
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular tachycardia, Cardiomyopathy, Hypotension, Arrhythmia ORPHA:159
Chromosome 2Q37 Deletion Syndrome
Arrhythmia OMIM:600430
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Arrhythmia ORPHA:42
Spondyloarthropathy, Susceptibility To, 1
Aortic regurgitation, Arrhythmia OMIM:106300
Rheumatic Fever
Myocarditis, Pericarditis, Epistaxis, Arrhythmia ORPHA:3099
Friedreich Ataxia 2
Congestive heart failure, Abnormal EKG, Concentric hypertrophic cardiomyopathy OMIM:601992
Mitochondrial Trifunctional Protein Deficiency 1
Congestive heart failure, Dilated cardiomyopathy, Arrhythmia OMIM:609015
Botulism
Arrhythmia ORPHA:1267
Ileal Neuroendocrine Tumor
Tricuspid stenosis, Hypotension, Pulmonic stenosis, Right ventricular failure, Cardiogenic shock,... ORPHA:100078
Hyperkalemic Periodic Paralysis
Congestive heart failure, Arrhythmia ORPHA:682
Lipodystrophy, Congenital Generalized, Type 4
Atrial fibrillation, Tachycardia, Prolonged QT interval, Bradycardia OMIM:613327
Microscopic Polyangiitis
Congestive heart failure, Gastrointestinal hemorrhage, Vasculitis, Pericarditis, Epistaxis, Arrhy... ORPHA:727
Aicardi Syndrome
Sparse lateral eyebrow, Butterfly vertebrae, Scoliosis, Block vertebrae ORPHA:50
Cardiospondylocarpofacial Syndrome
Congenital diaphragmatic hernia, Tarsal synostosis, Fused cervical vertebrae, Recurrent otitis me... OMIM:157800
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Cardiomyopathy, Arrhythmia ORPHA:228305
Noonan Syndrome
Abnormal EKG, Hypertrophic cardiomyopathy, Arrhythmia ORPHA:648
Ethylene Glycol Poisoning
Congestive heart failure, Prolonged QT interval, Atrial fibrillation, Hypertension, Hypotension, ... ORPHA:31826
Foodborne Botulism
Arrhythmia ORPHA:228371
Colchicine Poisoning
Myocarditis, Congestive heart failure, Hypotension, Hypovolemia, Cardiogenic shock, Arrhythmia ORPHA:31824
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Congestive heart failure, Aortic regurgitation, Tricuspid regurgitation, Premature ventricular co... OMIM:620066
Mitochondrial Trifunctional Protein Deficiency
Congestive heart failure, Cardiomyopathy, Tricuspid regurgitation, Arrhythmia, Mitral regurgitation ORPHA:746
Carney Triad
Tachycardia, Gastrointestinal hemorrhage, Hypertension, Arrhythmia ORPHA:139411
Ogden Syndrome
Cardiogenic shock, Arrhythmia ORPHA:276432
Robinow Syndrome
Kyphoscoliosis, High anterior hairline, Scoliosis, Hemivertebrae, Fused thoracic vertebrae ORPHA:97360
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Ventricular fibrillation, Palpitations, Shortened PR interval, Second degr... ORPHA:79102
19P13.12 Microdeletion Syndrome
Mitral regurgitation, Aortic regurgitation, Arrhythmia ORPHA:254346
Legionnaires Disease
Myocarditis, Pericarditis, Hypotension, Arrhythmia ORPHA:549
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hip subluxation, Abnormal vertebral morphology, Cervical C2/C3 vertebral fusion, Facial hirsutism... ORPHA:444077
Apert Syndrome
Vertebral segmentation defect, Cervical C5/C6 vertebrae fusion ORPHA:87
Thrombocytopenia-Absent Radius Syndrome
Carpal bone hypoplasia, Fused cervical vertebrae, Seborrheic dermatitis, Shoulder muscle hypoplas... OMIM:274000
Symptomatic Form Of Hfe-Related Hemochromatosis
Congestive heart failure, Elevated jugular venous pressure, Cardiomyopathy, Portal hypertension, ... ORPHA:465508
Chromosome 16P13.3 Duplication Syndrome
Sacral dimple, Facial hypotonia, Tracheobronchomalacia, Hirsutism, Camptodactyly, Cervical C5/C6 ... OMIM:613458
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Fused cervical vertebrae, Seborrheic dermatitis, Superficial dermal perivascular inflammatory inf... ORPHA:83617
Craniofaciofrontodigital Syndrome
Congestive heart failure, Gastrointestinal hemorrhage, Persistent fetal circulation, Pulmonary ar... ORPHA:363705
Gitelman Syndrome
Palpitations, Prolonged QT interval, Hypotension, Ventricular tachycardia OMIM:263800
Cerebellar-Facial-Dental Syndrome
Abnormal T-wave ORPHA:444072
Giant Cell Arteritis
Vasculitis, Cerebral ischemia, Pericarditis, Epistaxis, Arrhythmia, Sudden cardiac death ORPHA:397
Carnitine Palmitoyltransferase I Deficiency
Arrhythmia OMIM:255120
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Arrhythmia ORPHA:2878
Pseudohypoparathyroidism Type 1B
Prolonged QT interval ORPHA:94089
Primary Triglyceride Deposit Cardiomyovasculopathy
Angina pectoris, Low-output congestive heart failure, Cardiomyopathy, Arrhythmia, Palpitations ORPHA:565612
African Trypanosomiasis
Myocarditis, Congestive heart failure, Pericarditis, Arrhythmia, Third degree atrioventricular bl... ORPHA:3385
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Left ventricular outflow tract obstruction, Low-output congestive heart failure, Hypertrophic car... ORPHA:308552
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Prolonged QT interval, Hypertrophic cardiomyopathy ORPHA:71212
Dilated Cardiomyopathy With Ataxia
Dilated cardiomyopathy, Prolonged QT interval ORPHA:66634
Multiple Acyl-Coa Dehydrogenase Deficiency
Congestive heart failure, Cardiomyopathy, Arrhythmia ORPHA:26791
Hamamy Syndrome
Mitral regurgitation, Prolonged QRS complex OMIM:611174
Ivic Syndrome
Arrhythmia ORPHA:2307
16P11.2P12.2 Microdeletion Syndrome
Tricuspid regurgitation, Arrhythmia ORPHA:261211
Heterotaxy, Visceral, 1, X-Linked
Block vertebrae, Absence of the sacrum, Congenital hip dislocation OMIM:306955
Noonan Syndrome With Multiple Lentigines
Hypertrophic cardiomyopathy, Pulmonic stenosis, Bundle branch block, Arrhythmia, Myocardial infar... ORPHA:500
Fabry Disease
Congestive heart failure, Angina pectoris, Hypertension, Transient ischemic attack, Hypertrophic ... ORPHA:324
Cerebral Creatine Deficiency Syndrome 1
Prolonged QT interval OMIM:300352
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Atrioventricular block, Arrhythmia ORPHA:93317
Lymphedema-Distichiasis Syndrome
Arrhythmia ORPHA:33001
Autosomal Dominant Hypocalcemia
Congestive heart failure, Hypotension, Arrhythmia ORPHA:428
Von Hippel-Lindau Disease
Myocarditis, Hypertension, Cardiomyopathy, Arrhythmia, Palpitations, Abnormal left ventricular fu... ORPHA:892
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Hypertrophic cardiomyopathy, Arrhythmia OMIM:615471
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Arrhythmia ORPHA:3220
Neuroleptic Malignant Syndrome
Bradycardia, Hypertension, Hypotension, Hypertensive crisis, Arrhythmia, Tachycardia, Pulmonary e... ORPHA:94093
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Hypertension, Hypertrophic cardiomyopathy, Arrhythmia OMIM:614052
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Arrhythmia OMIM:619184
Agel Amyloidosis
Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Arrhythmia ORPHA:85448
Hennekam-Beemer Syndrome
Hypotension, Telangiectasia of the skin, Arrhythmia ORPHA:2135
Localized Scleroderma
Vasculitis, Raynaud phenomenon, Arrhythmia ORPHA:90289
Phakomatosis Pigmentokeratotica
Raynaud phenomenon, Arrhythmia ORPHA:2874
Autosomal Dominant Progressive External Ophthalmoplegia
Reduced left ventricular ejection fraction, Atrial fibrillation, Ventricular arrhythmia, Arrhythm... ORPHA:254892
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Antenatal intracerebral hemorrhage, Arrhythmia OMIM:608836
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Prolonged QT interval, Pulmonary arterial hypertension OMIM:620029
Woodhouse-Sakati Syndrome
Abnormal T-wave OMIM:241080
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Heart block, Cardiomyopathy, Arrhythmia ORPHA:228308
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Arrhythmia, High-output congestive heart failure ORPHA:231226
Carnitine Palmitoyltransferase Ii Deficiency
Cardiomyopathy, Arrhythmia ORPHA:157
Wiskott-Aldrich Syndrome
Hematemesis, Vasculitis, Internal hemorrhage, Epistaxis, Hematochezia, Intracranial hemorrhage, A... ORPHA:906
Steinert Myotonic Dystrophy
Left ventricular systolic dysfunction, Atrial fibrillation, Supraventricular tachycardia, Cardiac... ORPHA:273
Kleefstra Syndrome
Arrhythmia ORPHA:261494
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Angina pectoris, Vasculitis, Hypertension, Cerebral ischemia, Perica... ORPHA:900
Mgat2-Cdg
Reflex asystolic syncope, Arrhythmia ORPHA:79329
Generalized Arterial Calcification Of Infancy
Stippled calcification of the elbow, Hypophosphatemic rickets, Fused cervical vertebrae, Abnormal... ORPHA:51608
Woodhouse-Sakati Syndrome
Abnormal T-wave ORPHA:3464
Beta-Thalassemia Major
Dilated cardiomyopathy, Arrhythmia, High-output congestive heart failure ORPHA:231214
Lymphedema-Distichiasis Syndrome
Arrhythmia OMIM:153400
Linear Skin Defects With Multiple Congenital Anomalies 1
Histiocytoid cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia OMIM:309801
Ulnar-Mammary Syndrome
Arrhythmia ORPHA:3138
17Q24.2 Microdeletion Syndrome
Pulmonic stenosis, Prolonged QT interval ORPHA:529962
Oculodentodigital Dysplasia
Arrhythmia ORPHA:2710
Leptospirosis
Hypotension, Retinal hemorrhage, Pericarditis, Subconjunctival hemorrhage, Arrhythmia, First degr... ORPHA:509
Elsahy-Waters Syndrome
Thick eyebrow, Cervical C2/C3 vertebral fusion, Synophrys OMIM:211380
Familial Mediterranean Fever
Pericarditis, Arrhythmia, Myocardial infarction, Vasculitis ORPHA:342
Craniofacial Microsomia 1
Genu valgum, Scoliosis, Hemivertebrae, Vertebral hypoplasia, Block vertebrae, Hypoplasia of facia... OMIM:164210
Ogden Syndrome
Supraventricular tachycardia, Premature ventricular contraction, Pulmonary arterial hypertension,... OMIM:300855
Pagod Syndrome
Sudden cardiac death, Arrhythmia ORPHA:991
Pseudohypoparathyroidism Type 1C
Prolonged QT interval ORPHA:79444
Kawasaki Disease
Myocarditis, Congestive heart failure, Vasculitis, Pericarditis, Arrhythmia ORPHA:2331
Pseudohypoparathyroidism Type 1A
Hypertension, Prolonged QT interval ORPHA:79443
Oculodentodigital Dysplasia
Arrhythmia OMIM:164200
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Arrhythmia ORPHA:163746
Holt-Oram Syndrome
Limited elbow extension, Abnormal carpal morphology, Sacral dimple, Aplasia of the pectoralis maj... OMIM:142900
Schwartz-Jampel Syndrome
Pulmonary arterial hypertension, Arrhythmia ORPHA:800
Hyperparathyroidism-Jaw Tumor Syndrome
Shortened QT interval ORPHA:99880
45,X/46,Xy Mixed Gonadal Dysgenesis
Tachycardia, Prolonged QT interval ORPHA:1772
Parathyroid Carcinoma
Shortened QT interval ORPHA:143
Holoprosencephaly
Arrhythmia ORPHA:2162
Dpagt1-Cdg
Prolonged QT interval, Intracranial hemorrhage ORPHA:86309
Mucopolysaccharidosis Type 2, Severe Form
Heart murmur, Hypertension, Cardiomyopathy, Arrhythmia ORPHA:217085
Microphthalmia With Linear Skin Defects Syndrome
Hypertrophic cardiomyopathy, Tricuspid regurgitation, Arrhythmia, Dilated cardiomyopathy, Mitral ... ORPHA:2556
Mucopolysaccharidosis Type 2, Attenuated Form
Heart murmur, Hypertension, Cardiomyopathy, Arrhythmia ORPHA:217093
Cockayne Syndrome B
Hypertension, Arrhythmia OMIM:133540
Cockayne Syndrome A
Hypertension, Arrhythmia OMIM:216400
Amoebiasis Due To Free-Living Amoebae
Arrhythmia ORPHA:68
Mucopolysaccharidosis Type 2
Hypertension, Cardiomyopathy, Arrhythmia ORPHA:580
Multiple Endocrine Neoplasia Type 1
Hematemesis, Hypertension, Shortened QT interval, Melena ORPHA:652
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Arrhythmia OMIM:250220
Turner Syndrome Due To Structural X Chromosome Anomalies
Hypertension, Prolonged QT interval, Myocardial infarction ORPHA:99413
Turner Syndrome
Hypertension, Prolonged QT interval, Myocardial infarction ORPHA:881
Mosaic Monosomy X
Hypertension, Prolonged QT interval, Myocardial infarction ORPHA:99228
Monosomy X
Hypertension, Prolonged QT interval, Myocardial infarction ORPHA:99226
Specc1L-Related Hypertelorism Syndrome
Arrhythmia ORPHA:1519
Sarcoidosis
Heart block, Abnormal cardiac ventricular function, Portal hypertension, Arrhythmia, Ventricular ... ORPHA:797
Costello Syndrome
Pulmonic stenosis, Hypertrophic cardiomyopathy, Arrhythmia OMIM:218040
Plague
Hematemesis, Arrhythmia, Hypotension, Tachycardia ORPHA:707
Proteasome-Associated Autoinflammatory Syndrome 1
Congestive heart failure, Arrhythmia OMIM:256040
Stickler Syndrome
Arrhythmia ORPHA:828
Ulnar-Mammary Syndrome
Arrhythmia OMIM:181450
Hypermobile Ehlers-Danlos Syndrome
Epistaxis, Raynaud phenomenon, Arrhythmia ORPHA:285
Simpson-Golabi-Behmel Syndrome, Type 1
Pulmonic stenosis, Cardiomyopathy, Arrhythmia 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 Scn3b

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 Scn3b.

There are 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Scn3btm1a(KOMP)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Scn3btm1a(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Scn3btm1a(KOMP)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Scn3btm1a(KOMP)Wtsi PMC5827107

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Scn3btm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Scn3btm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Scn3btm37442(L1L2_st0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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