Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
vertebral fusion Scn3btm1a(KOMP)Wtsi HOM   Early adult 8.79×10-05
abnormal bone structure Scn3btm1a(KOMP)Wtsi HOM Early adult 4.11×10-05

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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 Whole Body Dorso Ventral

13 Images

X-ray

XRay Images Skull Lateral Orientation

12 Images

X-ray

XRay Images Forepaw

12 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

13 Images

Legacy Phenotype Associated Images

View all 64 images

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.

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
Arrhythmia, Syncope OMIM:115080
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Arrhythmia ORPHA:3193
Cardiomyopathy, Familial Hypertrophic, 11
Arrhythmia, Hypertrophic cardiomyopathy OMIM:612098
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Arrhythmia OMIM:212500
Brugada Syndrome 9
Palpitations, Presyncope, ST segment elevation OMIM:616399
His Bundle Tachycardia
Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy ORPHA:3283
Long Qt Syndrome 11
Prolonged QT interval, Syncope OMIM:611820
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular arrhythmia, Prolonged QRS complex, T-wave inversion, Ventricular tachycardia, Right v... OMIM:611528
Long Qt Syndrome 10
Atrial fibrillation, Sudden cardiac death, Atrioventricular block, Prolonged QT interval, T-wave ... OMIM:611819
Jervell And Lange-Nielsen Syndrome 1
Sudden cardiac death, Prolonged QT interval, Torsade de pointes, Syncope OMIM:220400
Brugada Syndrome 3
Ventricular arrhythmia, Shortened QT interval, J wave, Atrial fibrillation, Sudden cardiac death,... OMIM:611875
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Incessant Infant Ventricular Tachycardia
Bundle branch block, Prolonged QRS complex, Wolff-Parkinson-White syndrome, Ventricular tachycard... ORPHA:45453
Long Qt Syndrome 3
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:603830
Long Qt Syndrome 2
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613688
Long Qt Syndrome 6
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613693
Long Qt Syndrome 5
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613695
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Syncope, Prolonged QT interval, Ventricular tachycardia OMIM:614021
Long Qt Syndrome 1
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:192500
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Palpitations, Prolonged QRS complex, Ventricular extrasystoles, Ventricular tachycardia, Sudden c... OMIM:604400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Ventricular arrhythmia, Sudden cardiac death, Right ventricular cardiomyopathy OMIM:107970
Short Qt Syndrome 1
Palpitations, Paroxysmal atrial fibrillation, Shortened QT interval, Sudden cardiac death, Cardia... OMIM:609620
Brugada Syndrome
Ventricular arrhythmia, Sick sinus syndrome, Ventricular fibrillation, Supraventricular tachycard... ORPHA:130
Brugada Syndrome 6
Ventricular fibrillation, Cardiac arrest, ST segment elevation OMIM:613119
Long Qt Syndrome 15
Ventricular fibrillation, Prolonged QT interval, Cardiac arrest, Bradycardia, Prolonged QTc interval OMIM:616249
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Scapular winging, Proximal amyotrophy, Muscular dystrophy, Flexion contracture, Facial palsy, Ele... OMIM:253600
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Nathalie Syndrome
Abnormal EKG OMIM:255990
Nathalie Syndrome
Arrhythmia ORPHA:2663
Brugada Syndrome 7
Atrial flutter, ST segment elevation OMIM:613120
Long Qt Syndrome 12
Ventricular fibrillation, Prolonged QTc interval, Torsade de pointes, Syncope OMIM:612955
Heart-Hand Syndrome, Slovenian Type
Arrhythmia, Abnormal electrophysiology of sinoatrial node origin, Supraventricular arrhythmia, Ab... ORPHA:168796
Long Qt Syndrome 14
Atrioventricular block, Ventricular fibrillation, Sinus bradycardia, Prolonged QT interval, Cardi... OMIM:616247
Cardiac Arrhythmia, Ankyrin-B-Related
Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Prolonged QT interval, Syncope OMIM:600919
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Tarsal synostosis, Abnormal form of the vertebral bodies, Posterior fusion of lumbosacral vertebr... ORPHA:2064
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function OMIM:609909
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation OMIM:617280
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Arrhythmia, Paroxysmal supraventricular tachycardia, Abnormal left ven... ORPHA:45452
Jervell And Lange-Nielsen Syndrome 2
Sudden cardiac death, Prolonged QT interval, Torsade de pointes, Syncope OMIM:612347
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Arrhythmia, Bundle branch block ORPHA:1479
Sick Sinus Syndrome 1
Sick sinus syndrome, Ventricular escape rhythm, Atrioventricular block, Absent P wave, Sinus brad... OMIM:608567
Long-Thumb Brachydactyly Syndrome
Arrhythmia OMIM:112430
Long Qt Syndrome 9
Ventricular arrhythmia, Prolonged QT interval, Sinus bradycardia, Cardiac arrest OMIM:611818
Progressive Familial Heart Block, Type Ib
Arrhythmia, Atrioventricular block, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Pulmonary embolism, Atrioventr... OMIM:613485
Atrial Fibrillation, Familial, 4
Palpitations, Premature atrial contractions, Paroxysmal atrial fibrillation, Atrial fibrillation,... OMIM:611493
Wolff-Parkinson-White Syndrome
Palpitations, Prolonged QRS complex, Paroxysmal supraventricular tachycardia, Wolff-Parkinson-Whi... OMIM:194200
Focal Myositis
Elevated circulating creatine kinase concentration, Myositis, Limitation of joint mobility ORPHA:48918
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Skeletal muscle atrophy, Elevated... OMIM:615422
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Brugada Syndrome 1
Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria... OMIM:601144
Familial Short Qt Syndrome
Ventricular arrhythmia, Palpitations, Shortened QT interval, Atrial fibrillation, Sudden cardiac ... ORPHA:51083
Short Qt Syndrome 3
Shortened QT interval, Palpitations, Tachycardia OMIM:609622
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Cardiomyopathy OMIM:309930
Short Qt Syndrome 2
Shortened QT interval, Atrial fibrillation, Sudden cardiac death, Ventricular fibrillation, Brady... OMIM:609621
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Palpitations, Prolonged PR interval, Prolonged QTc interval OMIM:612240
Congenital Left Ventricular Aneurysm
Abnormal T-wave, Arrhythmia, Congestive heart failure, Abnormal ST segment ORPHA:1055
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Syncope, Cardiac arrest, Ventricular tachycardia OMIM:614916
Brugada Syndrome 5
Ventricular fibrillation, Bundle branch block, ST segment elevation OMIM:612838
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, Bradycardia, T-wave alternans OMIM:618782
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Elevated circulating creatine k... ORPHA:565899
Atrioventricular Dissociation
Congenital atrioventricular dissociation OMIM:209600
Brugada Syndrome 4
Shortened QT interval, Atrial fibrillation, Syncope OMIM:611876
Mazabraud Syndrome
Recurrent fractures, Bone pain, Fibrous dysplasia of the bones ORPHA:57782
Familial Progressive Cardiac Conduction Defect
Arrhythmia, Bundle branch block, Congestive heart failure, Heart block, Syncope ORPHA:871
Romano-Ward Syndrome
Ventricular arrhythmia, Torsade de pointes, Abnormal cardiac exercise stress test, Sudden cardiac... ORPHA:101016
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, ST segment elevation, Prolonged PR interval, Hypertension OMIM:615378
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Abnormal left ventricular function, Atrial fibrillation, Ventricular tachycard... OMIM:604772
Atrial Standstill 1
Premature atrial contractions, Atrial standstill, Atrial cardiomyopathy, Paroxysmal atrial fibril... OMIM:108770
Multiple Synostoses Syndrome 2
Humeroradial synostosis, Tarsal synostosis, Proximal symphalangism, Vertebral fusion, Finger symp... OMIM:610017
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Ventricular arrhythmia, Palpitations, Sudden cardiac death, Right ventricular cardiomyopathy, Syn... OMIM:610476
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Paroxysmal supraventricular tachycardia, Atrial flutter, Ventricular extrasystoles, Atrial fibril... OMIM:616117
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Hemivertebrae, Vertebral fusion, Abnormality of the odontoid process, Kyphoscoliosis, ... OMIM:277300
Catecholaminergic Polymorphic Ventricular Tachycardia
Sudden cardiac death, Syncope, Ventricular tachycardia ORPHA:3286
Osteomesopyknosis
Scoliosis, Sclerotic vertebral body, Abnormal form of the vertebral bodies, Kyphosis, Abnormal co... ORPHA:2777
Cardiomyopathy, Familial Hypertrophic, 13
ST segment depression, Atrial fibrillation, Hypertrophic cardiomyopathy, Ventricular fibrillation... OMIM:613243
Glycogen Storage Disease Xv
Ventricular arrhythmia, Right bundle branch block OMIM:613507
Ventricular Fibrillation, Paroxysmal Familial, 1
Ventricular fibrillation, Tachycardia, Syncope OMIM:603829
Cardiomyopathy, Dilated, 1B
Ventricular arrhythmia, Impaired myocardial contractility, Congestive heart failure, Dilated card... OMIM:600884
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Right ven... OMIM:610193
Cardiomyopathy, Dilated, 1E
Palpitations, Premature atrial contractions, Atrial standstill, Atrial flutter, Ventricular extra... OMIM:601154
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure OMIM:192600
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG OMIM:178650
Cardiomyopathy, Familial Hypertrophic, 8
Palpitations, Restrictive cardiomyopathy, T-wave inversion, Sudden cardiac death, Ventricular fib... OMIM:608751
Cardiomyopathy, Dilated, 1Dd
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure OMIM:613172
Sinoatrial Node Dysfunction And Deafness
Bradycardia OMIM:614896
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617182
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Ventricular Arrythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Polymorphic and polytopic ventricular extrasystoles, Sudden cardiac death, Ventricular fibrillati... OMIM:115000
Atrial Standstill
Palpitations, Reduced ejection fraction, Arrhythmia, Ischemic stroke, Cardiac conduction abnormal... ORPHA:1344
Progressive Familial Heart Block, Type Ia
Complete heart block with broad QRS complexes, Left posterior fascicular block, Sudden cardiac de... OMIM:113900
Ventricular Tachycardia, Familial
Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia OMIM:192605
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Reduced ejection fraction, Atrial fibrillation, Ventricular tachyc... OMIM:604145
Brugada Syndrome 2
Sudden cardiac death, Ventricular fibrillation, Prolonged PR interval, First degree atrioventricu... OMIM:611777
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Ventricular extrasystoles, Ventricular tachycardia, Cardiac arrest, Shock, Polymorphic ventricula... OMIM:615441
Cardiomyopathy, Familial Hypertrophic, 10
Palpitations, Asymmetric septal hypertrophy, T-wave inversion, Ventricular tachycardia, Sudden ca... OMIM:608758
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Shortened PR interval, Permanent a... OMIM:108950
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Syncope, Bradycardia, Ventricular tachycardia OMIM:611938
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Macroglossia, Scoliosis, Hyperlordo... OMIM:606612
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Mitral regurgitation, Ventricular arrhythmia OMIM:615916
Immune-Mediated Necrotizing Myopathy
EMG: myopathic abnormalities, Skin rash, Scapular winging, Proximal muscle weakness in lower limb... ORPHA:206569
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Sudden cardiac death, Ventricular extrasystoles, Right ventricular cardiomyopathy OMIM:604401
Left Ventricular Noncompaction 8
Arrhythmia, Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy,... OMIM:615373
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal lower limb amyotrophy, Limb-girdle muscular dystrophy, Proximal upper limb amyotrophy, P... OMIM:609115
Spondylocostal Dysostosis 6, Autosomal Recessive
Scoliosis, Hemivertebrae, Cervical kyphosis, Spinal canal stenosis, Butterfly vertebrae OMIM:616566
Ventricular Fibrillation, Paroxysmal Familial, 2
Sudden cardiac death, Ventricular fibrillation, Ventricular extrasystoles OMIM:612956
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Cardiomyopathy, Ventricular tachycardia OMIM:612124
Cardiomyopathy, Dilated, 1O
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia OMIM:608569
Cardiomyopathy, Dilated, 1A
Ventricular arrhythmia, Atrial flutter, Atrial fibrillation, Congestive heart failure, Dilated ca... OMIM:115200
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Complete heart block with narrow QRS complexes, Atrioventricular block, Sin... OMIM:140400
Cardiomyopathy, Dilated, 1J
Sudden cardiac death, Congestive heart failure, Abnormal left ventricular function, Dilated cardi... OMIM:605362
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Left bundle branch block, Presy... OMIM:618920
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Ventricular fibrillatio... OMIM:607450
Intellectual Developmental Disorder With Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617173
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Scoliosis, Tarsal synostosis, Flexion contracture, Fused thoracic vertebrae, Antecubital pterygiu... OMIM:618469
Atrial Fibrillation, Familial, 15
Atrial flutter, Atrial fibrillation OMIM:615770
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Pustule, Increased inflammatory response, Myositis, Crohn's disease, Limitation of joint mobility... ORPHA:69126
Atrial Fibrillation, Familial, 1
Tachycardia, Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 3
Tachycardia, Atrial fibrillation OMIM:607554
Muscular Dystrophy, Progressive Pectorodorsal
Arrhythmia OMIM:310095
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Ventricular arrhythmia, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy OMIM:601493
Myositis
Myositis OMIM:160750
Cardiomyopathy, Familial Hypertrophic, 21
Arrhythmia, Cardiomyopathy OMIM:614676
Sinus Node Disease And Myopia
Abnormal electrophysiology of sinoatrial node origin, Sick sinus syndrome OMIM:182190
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Bundle branch block, Ventricular tachycardia OMIM:615616
Tako-Tsubo Cardiomyopathy
Ventricular arrhythmia, Prolonged QTc interval, Syncope, Cardiogenic shock, Decreased QRS voltage... ORPHA:66529
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Cardiomyopathy, Dilated, 1R
Ventricular arrhythmia, Restrictive cardiomyopathy, Congestive heart failure, Dilated cardiomyopathy OMIM:613424
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Arrhythmia, Atrial fibrillation, Bradycardia OMIM:614302
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Familial Dilated Cardiomyopathy
Ventricular arrhythmia, Palpitations, Reduced ejection fraction, Arrhythmia, Elevated pulmonary a... ORPHA:217607
Cardiomyopathy, Familial Hypertrophic, 28
Asymmetric septal hypertrophy, Reduced ejection fraction, Atrial fibrillation, Concentric hypertr... OMIM:619402
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Arrhythmia OMIM:618453
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Scoliosis, Hyperlordosis, Macroglossia, Congenital muscular dystrophy, Kyphosis, Pelvic girdle mu... OMIM:607155
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Scoliosis, Multiple pterygia, Arthrogryposis multiplex congenita, Craniosynostosis, Tarsal synost... OMIM:178110
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Muscular dystrophy, Flexion contracture, Increased endomysial connective tissue, Spinal rigidity,... OMIM:617072
Spondylocostal Dysostosis 4, Autosomal Recessive
Hemivertebrae, Vertebral fusion, Abnormality of the odontoid process, Spina bifida occulta, Block... OMIM:613686
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Synostosis of carpals/tarsals OMIM:269630
Graft Versus Host Disease
Acute hepatitis, Gastrointestinal inflammation, Inflammatory abnormality of the skin, Hyperbiliru... ORPHA:39812
Cardiomyopathy, Familial Hypertrophic, 6
Asymmetric septal hypertrophy, Ventricular preexcitation, Wolff-Parkinson-White syndrome, Atrial ... OMIM:600858
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Scoliosis, Fused cervical vertebrae, Abnormal sacrum morphology, Thoracic hemivertebrae ORPHA:1436
Distal Osteosclerosis
Hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis OMIM:126250
Cardiomyopathy, Dilated, 2B
Dilated cardiomyopathy, Congestive heart failure, Atrial fibrillation OMIM:614672
Eosinophilic Fasciitis
Myositis, Muscular edema, Fasciitis, Arthritis ORPHA:3165
Hypokalemic Periodic Paralysis, Type 1
Myopathy, Hypokalemia OMIM:170400
Spondylocostal Dysostosis 5
Scoliosis, Low back pain, Hemivertebrae, Vertebral fusion, Short neck, Butterfly vertebrae OMIM:122600
Cardiomyopathy, Familial Hypertrophic 27
Mitral regurgitation, Prolonged QT interval, Tricuspid regurgitation OMIM:618052
Hypokalemic Periodic Paralysis, Type 2
Myopathy, Hypokalemia OMIM:613345
Jervell And Lange-Nielsen Syndrome
Arrhythmia, Ventricular fibrillation, Prolonged QTc interval, Torsade de pointes, Syncope ORPHA:90647
Myopathy, X-Linked, With Postural Muscle Atrophy
Arrhythmia, Hypertrophic cardiomyopathy OMIM:300696
Cardiomyopathy, Dilated, 2C
Pulmonary arterial hypertension, Reduced ejection fraction, Dilated cardiomyopathy OMIM:618189
Periodic Fever, Familial, Autosomal Dominant
Skin rash, Bone pain, Maculopapular exanthema, Conjunctivitis, Erysipelas, Oligoarthritis, Polyar... OMIM:142680
Cardiomyopathy, Familial Hypertrophic, 25
Dilated cardiomyopathy, Wolff-Parkinson-White syndrome OMIM:607487
Atrial Fibrillation, Familial, 12
Paroxysmal atrial fibrillation OMIM:614050
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation OMIM:613980
Atrial Septal Defect, Sinus Venosus Type
Premature atrial contractions, Palpitations, Cardiac conduction abnormality, Supraventricular arr... ORPHA:99105
Atrial Fibrillation, Familial, 11
Atrial fibrillation OMIM:614049
Atrial Fibrillation, Familial, 6
Atrial fibrillation OMIM:612201
Atrial Fibrillation, Familial, 5
Atrial fibrillation OMIM:611494
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Arrhythmia, Cardiomyopathy OMIM:612999
Sting-Associated Vasculopathy, Infantile-Onset
Skin rash, Pustule, Sparse hair, Malar rash, Joint stiffness, Elevated circulating C-reactive pro... OMIM:615934
Cardiogenic Shock
Low pulse pressure, Right ventricular failure, Hypotension, Abnormal left ventricular function, I... ORPHA:97292
Congenital Heart Defects, Multiple Types, 3
Atrial fibrillation, Atrioventricular block, Tachycardia, Atrioventricular dissociation, Right bu... OMIM:614954
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Ventricular arrhythmia, Palpitations, Sudden cardiac death, Right ventricular cardiomyopathy, Syn... OMIM:609040
Monosodium Glutamate Sensitivity
Palpitations OMIM:231630
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Ventricular tachycardia OMIM:611878
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Scoliosis, Fused cervical vertebrae, Prominent metopic ridge, Thoracic hemivertebrae OMIM:309620
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral fusion, Vertebral segmentation defect OMIM:221950
Antisynthetase Syndrome
Skin rash, Keratoconjunctivitis sicca, Joint dislocation, Myocarditis, Elevated circulating creat... ORPHA:81
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Asymmetric septal hypertrophy, Atrial fibrillation, Ventricular tachyca... OMIM:613838
Atrial Standstill 2
Palpitations, Atrial standstill, Atrial cardiomyopathy, Atrial arrhythmia, Absent P wave, Bradyca... OMIM:615745
Cardiomyopathy, Familial Hypertrophic, 7
Atrial fibrillation, Cardiomyopathy OMIM:613690
Bacterial Toxic-Shock Syndrome
Peritonitis, Hypocalcemia, Skin rash, Elevated circulating creatinine concentration, Pneumonia, S... ORPHA:36234
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Atrioventricular block, Supraventricular tachycardia, Cardiac arrest, Dilate... OMIM:612158
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Ventricular arrhythmia, Cardiac conduction abnormality, Atrial flutter, Abnormal left ventricular... ORPHA:300751
Mixed Connective Tissue Disease
Skin rash, Osteolysis, Joint swelling, Pericarditis, Keratoconjunctivitis sicca, Joint stiffness,... ORPHA:809
Pulmonary Hypertension, Primary, 4
Pulmonary arterial hypertension, Increased pulmonary vascular resistance, Arrhythmia, Elevated pu... OMIM:615344
Malignant Hyperthermia, Susceptibility To, 2
Viral infection-induced rhabdomyolysis, Exercise-induced rhabdomyolysis, Anesthetic-induced rhabd... OMIM:154275
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Widening of cervical spinal canal, Nemaline bodies, Cervical vertebral bodies with decreased ante... OMIM:606842
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Sick sinus syndrome, Atrial fibrillation, Pulmonic stenosis, Mitral regurgitation... OMIM:616201
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Short neck, Abnormal vertebral segmentation and fu... ORPHA:66637
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Cardiomyopathy, Ventricular tachycardia OMIM:613873
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypocalcemia, Decreased prealbumin level, Interstitial pneumonitis, Eczematoid dermatitis, Thyroi... ORPHA:37042
Spondylocostal Dysostosis 3, Autosomal Recessive
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Vertebral segmentation defect,... OMIM:609813
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, Arrhythmia, T-wave inversion, Ventricular tachycardia, Ventricular fibrillation, ST... ORPHA:263297
Combined Oxidative Phosphorylation Deficiency 23
Cardiomyopathy, Arrhythmia, Congestive heart failure OMIM:616198
Malignant Hyperthermia, Susceptibility To, 3
Viral infection-induced rhabdomyolysis, Exercise-induced rhabdomyolysis, Anesthetic-induced rhabd... OMIM:154276
Left Ventricular Noncompaction 1
Ventricular arrhythmia, Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Left... OMIM:604169
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Arrhythmia, Hypertension, Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy ORPHA:1345
Proteasome-Associated Autoinflammatory Syndrome 4
Panniculitis, Myositis, Flexion contracture, Skeletal muscle atrophy OMIM:619183
Pyoderma Gangrenosum
Inflammation of the large intestine, Myositis, Rheumatoid arthritis, Pustule ORPHA:48104
Duchenne And Becker Muscular Dystrophy
Scoliosis, Hyperlordosis, Reduced bone mineral density, Joint stiffness, Skeletal muscle atrophy,... ORPHA:262
Brachydactyly, Type B1
Hypoplastic sacrum, Camptodactyly, Hemivertebrae, Vertebral fusion, Delayed cranial suture closur... OMIM:113000
Atrial Fibrillation, Familial, 10
Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Atrial flutter, Tricuspid regurgit... OMIM:614022
Thymoma
Skin rash, Pericarditis, Thyroiditis, Keratoconjunctivitis sicca, Alopecia, Myocarditis, Myositis... ORPHA:99867
Proteasome-Associated Autoinflammatory Syndrome 3
Skin rash, Flexion contracture, Panniculitis, Hypertriglyceridemia, Conjunctivitis, Sinusitis, My... OMIM:617591
Muscular Dystrophy, Duchenne Type
Arrhythmia, Cardiomyopathy, Congestive heart failure, Dilated cardiomyopathy, Abnormal EKG OMIM:310200
Acrodysplasia Scoliosis
Scoliosis, Vertebral segmentation defect, Spina bifida occulta ORPHA:2956
Isolated Klippel-Feil Syndrome
Scoliosis, Low posterior hairline, Abnormality of the vertebral column, Congenital muscular torti... ORPHA:2345
Leber Hereditary Optic Neuropathy
Retinal telangiectasia, Arrhythmia, Ventricular preexcitation ORPHA:104
Naxos Disease
Ventricular arrhythmia, Palpitations, Prolonged QRS complex, T-wave inversion, Ventricular extras... OMIM:601214
Tropical Endomyocardial Fibrosis
Atrial flutter, P pulmonale, Tricuspid regurgitation, Abnormal T-wave, Cardiogenic shock, Reduced... ORPHA:75565
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Vertebral segmentation defect, Sacral dimple OMIM:618845
Dystonia 23
Arrhythmia OMIM:614860
Wild Type Attr Amyloidosis
Arrhythmia, Orthostatic hypotension due to autonomic dysfunction, Myocardial infarction, Congesti... ORPHA:330001
Klippel-Feil Syndrome 2, Autosomal Recessive
Scoliosis, Short neck, Fused cervical vertebrae, Cervical C2/C3 vertebral fusion OMIM:214300
Whipple Disease
Pericarditis, Hyponatremia, Uveitis, Encephalitis, Myocarditis, Myositis, Arthritis ORPHA:3452
Ebstein Anomaly
Atrial standstill, Ventricular preexcitation, Atrial fibrillation, Sudden cardiac death, Right bu... OMIM:224700
Sick Sinus Syndrome 2
Aortic regurgitation, Sick sinus syndrome, Atrial fibrillation, Ventricular fibrillation, Sinus b... OMIM:163800
Keratoconus Posticus Circumscriptus
Short neck, Limited elbow extension and supination, Abnormal vertebral segmentation and fusion OMIM:244600
Peripartum Cardiomyopathy
Cardiogenic shock, Palpitations, Reduced ejection fraction, Right ventricular failure, Dilated ca... ORPHA:563
Verheij Syndrome
Scoliosis, Hemivertebrae, Vertebral fusion, Hip dislocation, Short neck OMIM:615583
Hypokalemic Periodic Paralysis
Mildly elevated creatine kinase, Increased intramyocellular lipid droplets, Episodic hypokalemia,... ORPHA:681
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2
Ventricular arrhythmia, Effort-induced polymorphic ventricular tachycardia, Right ventricular car... OMIM:600996
Cardiomyopathy, Familial Hypertrophic, 26
Mitral regurgitation, Congestive heart failure, Atrial fibrillation OMIM:617047
Scapuloperoneal Myopathy, X-Linked Dominant
Arrhythmia OMIM:300695
Sweet Syndrome
Inflammation of the large intestine, Pustule, Panniculitis, Elevated circulating C-reactive prote... ORPHA:3243
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Scoliosis, Hyperlordosis, Macroglossia, Congenital muscular dystrophy, Muscular dystrophy, Absent... ORPHA:258
Renal Tubular Acidosis Iii
Rickets, Osteomalacia, Hypokalemia OMIM:267200
Juvenile Dermatomyositis
Skin rash, Pericarditis, Calcinosis, Elevated circulating C-reactive protein concentration, Alope... ORPHA:93672
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG ORPHA:1177
Cardiomyopathy, Familial Hypertrophic, 20
Atrial fibrillation, Cardiomyopathy OMIM:613876
Atrial Septal Defect, Ostium Secundum Type
Palpitations, Arrhythmia, Bundle branch block, Right ventricular failure, Supraventricular arrhyt... ORPHA:99103
Hyperkalemic Periodic Paralysis
Skeletal muscle hypertrophy, Flexion contracture, Hyponatremia, Hypokalemia, Skeletal muscle atro... ORPHA:682
Congenital Aortic Valve Stenosis
Reduced ejection fraction, Abnormal pulse pressure, Angina pectoris, Abnormal left ventricular fu... ORPHA:3093
Atrial Septal Defect, Ostium Primum Type
Palpitations, Right bundle branch block, Atrial flutter, Third heart sound, Atrial fibrillation, ... ORPHA:99106
Complete Atrioventricular Septal Defect
Right ventricular failure, Elevated pulmonary artery pressure, Third heart sound, Abnormal atriov... ORPHA:1329
Liddle Syndrome
Arrhythmia, Cerebral ischemia, Hypertension ORPHA:526
Naxos Disease
Arrhythmia, Sudden cardiac death, Congestive heart failure, Paroxysmal ventricular tachycardia, C... ORPHA:34217
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Elbow dislocation, Increased bone mineral density, Abnormal vertebral... ORPHA:90650
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Arrhythmia, Prolonged QT interval ORPHA:2151
Spondylocostal Dysostosis 2, Autosomal Recessive
Short neck, Vertebral segmentation defect, Vertebral clefting, Hemivertebrae OMIM:608681
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Peritonitis, Skin rash, Pericarditis, Uveitis, Orchitis, Arthritis, Erysipelas, Conjunctivitis, E... ORPHA:32960
Pediatric Systemic Lupus Erythematosus
Skin rash, Discoid lupus rash, Malar rash, Alopecia, Myositis, Nephritis, Arthritis ORPHA:93552
Eosinophilic Granulomatosis With Polyangiitis
Skin rash, Endocarditis, Increased inflammatory response, Tubulointerstitial nephritis, Sinusitis... ORPHA:183
Propionic Acidemia
Arrhythmia, Cardiomyopathy ORPHA:35
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Arrhythmia OMIM:616516
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Skin rash, Pustule, Osteolysis, Joint swelling, Periostitis, Stomatitis, Elevated circulating C-r... OMIM:612852
Idiopathic/Heritable Pulmonary Arterial Hypertension
Palpitations, Abnormal cardiovascular system physiology, Tricuspid regurgitation, Heart murmur, P... ORPHA:422
Hyperaldosteronism, Familial, Type Ii
Hypokalemia OMIM:605635
Kbg Syndrome
Scoliosis, Thoracic kyphosis, Persistent open anterior fontanelle, Synophrys, Vertebral fusion, T... ORPHA:2332
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Scoliosis, Elbow dislocation, Abnormal form of the vertebral bodies, Kyphosis, Congenital muscula... ORPHA:2916
Fanconi Renotubular Syndrome 1
Rickets, Osteomalacia, Hypokalemia, Hypophosphatemia OMIM:134600
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets, Hypokalemia OMIM:602722
Kniest Dysplasia
Platyspondyly, Arthropathy, Enlarged joints, Flexion contracture of finger, Coronal cleft vertebr... ORPHA:485
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Elevated circulating creatine kinase concentration, Rhabdomyolysis, Hyperkalemia, Acute rhabdomyo... OMIM:268200
Symmetrical Thalamic Calcifications
Arrhythmia ORPHA:1314
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Arrhythmia ORPHA:1808
Fusariosis
Peritonitis, Bronchiectasis, Panniculitis, Pneumonia, Maculopapular exanthema, Keratitis, Fasciit... ORPHA:228119
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Short neck, Flexion contracture, Cervical C2/C3 vertebral fusion, Nemaline bodies, Acetabular dys... OMIM:616549
Asymmetric Short Stature Syndrome
Lumbar scoliosis, Fused cervical vertebrae OMIM:108450
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Arrhythmia ORPHA:99944
Sudden Cardiac Failure, Infantile
Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Myocarditis OMIM:617222
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral fusion, Vertebral segmentation defect, Abnormal sacrum morphology, Abnormal form of the... ORPHA:3109
Glycogen Storage Disease Due To Aldolase A Deficiency
EMG: myopathic abnormalities, Decreased muscle mass, Viral infection-induced rhabdomyolysis, Exer... ORPHA:57
Fibrodysplasia Ossificans Progressiva
Scoliosis, Small cervical vertebral bodies, Ectopic ossification in muscle tissue, Ectopic ossifi... OMIM:135100
3-Methylglutaconic Aciduria, Type V
Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failure, Prolonged QT interv... OMIM:610198
Myasthenia Gravis
Myositis, Rheumatoid arthritis, Hashimoto thyroiditis, Hepatitis ORPHA:589
Developmental And Speech Delay Due To Sox5 Deficiency
Scoliosis, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Vertebral fusion, Butterfly vertebrae ORPHA:313892
Multiple Pterygium Syndrome, X-Linked
Multiple pterygia, Flexion contracture, Vertebral fusion, Abnormal cervical curvature, Increased ... OMIM:312150
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Abnormal magnesium concentration, Hypokalemia, Increased serum prostaglandin E2, Increased circul... OMIM:241150
Microsporidiosis
Peritonitis, Prostatitis, Nephritis, Endocarditis, Lymphadenitis, Thyroiditis, Pneumonia, Cholang... ORPHA:2552
Extrasystoles, Multiform Ventricular, With Short Stature, Hyperpigmentation And Microcephaly
Ventricular extrasystoles OMIM:133750
Liddle Syndrome 3
Hypokalemia OMIM:618126
Hemochromatosis, Type 4
Arrhythmia, Cardiomyopathy OMIM:606069
Spinocerebellar Ataxia, Autosomal Recessive 23
Arrhythmia OMIM:616949
Attrv30M Amyloidosis
Atrioventricular block, Arrhythmia, Cardiomyopathy ORPHA:85447
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin OMIM:609438
Multiple Pterygium Syndrome, Lethal Type
Multiple pterygia, Flexion contracture, Vertebral fusion, Abnormal cervical curvature, Increased ... OMIM:253290
Alkaptonuria
Intervertebral disc degeneration, Low back pain, Kyphosis, Limited hip movement, Limitation of kn... OMIM:203500
Myofibrillar Myopathy 10
Increased circulating troponin I concentration, Increased QRS voltage, Prolonged QTc interval OMIM:619040
Gorlin Syndrome
Scoliosis, Vertebral wedging, Vertebral fusion, Hemivertebrae ORPHA:377
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Ventricular extrasystoles, Tachycardia, Syncope OMIM:192445
Hypocalcemia, Autosomal Dominant 1
Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Frontometaphyseal Dysplasia 1
Scoliosis, Camptodactyly of finger, Genu valgum, Scapular winging, Anteriorly placed odontoid pro... OMIM:305620
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Sudden cardiac death, Arrhythmia, Dilated cardiomyopathy OMIM:181350
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Maternally-Inherited Diabetes And Deafness
Arrhythmia, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy ORPHA:225
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Arrhythmia, Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Hypertension, Con... OMIM:540000
Klippel-Feil Syndrome 1, Autosomal Dominant
Scoliosis, Low posterior hairline, Congenital muscular torticollis, Cervical C2/C3 vertebral fusi... OMIM:118100
Ring Chromosome 21 Syndrome
Scoliosis, Fused thoracic vertebrae, Thoracic hemivertebrae ORPHA:1445
Desminopathy
Supraventricular arrhythmia, Concentric hypertrophic cardiomyopathy, Sudden cardiac death, Atriov... ORPHA:98909
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Arrhythmia, Hypertension ORPHA:3222
Axial Osteomalacia
Elevated circulating creatine kinase concentration, Osteomalacia, Myopathy, Increased bone minera... OMIM:109130
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia, Rhabdomyolysis OMIM:188580
Friedreich Ataxia
Abnormal EKG, Abnormal echocardiogram, Congestive heart failure, Hypertrophic cardiomyopathy OMIM:229300
Pituitary Adenoma 4, Acth-Secreting
Osteoporosis, Biconcave vertebral bodies, Kyphosis, Hirsutism, Hypokalemia, Skeletal muscle atrop... OMIM:219090
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Palpitations, Intracranial hemorrhage, Epistaxis, Hypertension, Abnormal T-wave ORPHA:231625
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets, Hypokalemia OMIM:611590
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Arrhythmia, Congestive heart failure, Cardiomyopathy OMIM:602390
Aarskog-Scott Syndrome
Camptodactyly of finger, Genu recurvatum, Joint hyperflexibility, High anterior hairline, Abnorma... ORPHA:915
Cardiomyopathy, Familial Hypertrophic, 4
Right bundle branch block, Left bundle branch block, Atrioventricular block, Ventricular fibrilla... OMIM:115197
Mahvash Disease
Palpitations OMIM:619290
Kbg Syndrome
Low anterior hairline, Thoracic kyphosis, Vertebral fusion, Thick eyebrow, Low posterior hairline... OMIM:148050
Wildervanck Syndrome
Fused cervical vertebrae, Low posterior hairline, Short neck, Facial palsy ORPHA:3456
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Arrhythmia, Sick sinus syndrome, Ventricular escape rhythm, Prolonged PR interval, Bradycardia ORPHA:542306
Cystinosis
Rickets, Myopathy, Hypokalemia, Hypophosphatemia ORPHA:213
Liddle Syndrome 2
Decreased circulating renin level, Hypokalemia OMIM:618114
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Cushing Disease
Osteoporosis, Recurrent fractures, Hypokalemia, Avascular necrosis, Generalized hirsutism, Myopat... ORPHA:96253
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Arrhythmia, Hypertension OMIM:617021
Salih Myopathy
Dilated cardiomyopathy, Arrhythmia OMIM:611705
Hypomagnesemia 2, Renal
Hypomagnesemia, Hypokalemia, Chondrocalcinosis OMIM:154020
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Tarsal synostosis, Hemivertebrae, Vertebral fusion, Spinal canal stenosis, Kyphoscoliosis, Hypopl... OMIM:263540
Lateral Meningocele Syndrome
Scoliosis, Joint hypermobility, Wormian bones, Biconcave vertebral bodies, Kyphosis, Coarse hair,... OMIM:130720
Acquired Aneurysmal Subarachnoid Hemorrhage
Ischemic stroke, ST segment depression, Hypertension, Myocardial infarction, Cerebral hemorrhage,... ORPHA:90065
Fanconi-Bickel Syndrome
Hypophosphatemia, Osteomalacia, Hypokalemia, Hypouricemia OMIM:227810
Combined Oxidative Phosphorylation Deficiency 10
Arrhythmia, Hypertrophic cardiomyopathy OMIM:614702
Hemangioma-Thrombocytopenia Syndrome
Ventricular arrhythmia OMIM:141000
Malignant Hyperthermia, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Rhabdomyolysis, Hyperkalemia, Hyperphosphatemia OMIM:145600
Cardiomyopathy, Dilated, 1S
Ventricular arrhythmia, Congestive heart failure, Dilated cardiomyopathy, Tricuspid regurgitation OMIM:613426
Congenital Muscular Dystrophy Due To Lmna Mutation
Congestive heart failure, Arrhythmia ORPHA:157973
Behçet Disease
Endocarditis, Pericarditis, Increased inflammatory response, Retrobulbar optic neuritis, Orchitis... ORPHA:117
Al Amyloidosis
Arrhythmia, Gastrointestinal hemorrhage, Postural hypotension with compensatory tachycardia, Incr... ORPHA:85443
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Increased circulating renin level, Hypochloremia OMIM:300971
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Arrhythmia ORPHA:2928
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Arrhythmia, Abnormal left ventricular function OMIM:618098
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Palpitations, Tachycardia OMIM:613239
Primary Sjögren Syndrome
Parotitis, Arteritis, Chronic active hepatitis, Thyroiditis, Polyarticular arthropathy, Optic neu... ORPHA:289390
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Kyphosis, Short neck, Fused cervical vertebrae ORPHA:2522
Ebstein Malformation Of The Tricuspid Valve
Arrhythmia, Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Cerebral ischemi... ORPHA:1880
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Radioulnar synostosis, Elbow dislocation, Shoulder dislocation, Asymmetric radial dysplasia, Genu... OMIM:171480
Multiple Pterygium Syndrome, Escobar Variant
Scoliosis, Dislocated radial head, Axillary pterygium, Arthrogryposis multiplex congenita, Anteri... OMIM:265000
East Syndrome
Hypomagnesemia, Hypokalemia, Lower limb muscle weakness, Increased circulating renin level ORPHA:199343
Pyomyositis
Myositis, Recurrent cutaneous abscess formation ORPHA:764
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Palpitations, Atrioventricular block, Sinus bradycardia, Syncope OMIM:616812
Atrial Septal Defect, Coronary Sinus Type
Palpitations, Arrhythmia, Bundle branch block, Right ventricular failure, Supraventricular arrhyt... ORPHA:99104
Barth Syndrome
Dilated cardiomyopathy, Arrhythmia, Congestive heart failure, Hypertrophic cardiomyopathy OMIM:302060
Liddle Syndrome 1
Decreased circulating renin level, Hypokalemia OMIM:177200
Caudal Regression Sequence
Scoliosis, Decreased muscle mass, Joint stiffness, Abnormal vertebral segmentation and fusion, Hy... ORPHA:3027
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Hypokalemia OMIM:218030
Cardiospondylocarpofacial Syndrome
Scoliosis, Tarsal synostosis, Joint laxity, Synostosis of carpals/tarsals, Carpal synostosis, Fus... OMIM:157800
Spondylocarpotarsal Synostosis Syndrome
Scoliosis, Hyperlordosis, Limited elbow extension, Tarsal synostosis, C2-C3 subluxation, Capitate... OMIM:272460
Primary Hypomagnesemia With Refractory Seizures And Intellectual Disability
Hypomagnesemia, Episodic hypokalemia ORPHA:564178
Hypomagnesemia, Seizures, And Mental Retardation 2
Hypomagnesemia, Hypokalemia OMIM:618314
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Scoliosis, Supernumerary vertebrae, Hemivertebrae, Vertebral fusion, Block vertebrae, Short neck OMIM:271520
Neonatal Lupus Erythematosus
Abnormal electrophysiology of sinoatrial node origin, Arrhythmia, Atrioventricular block, Prolong... ORPHA:398124
Acquired Methemoglobinemia
Palpitations, Arrhythmia, Tachycardia, Syncope ORPHA:464453
Koolen-De Vries Syndrome
Scoliosis, Hypopigmentation of hair, Joint hyperflexibility, Kyphosis, Vertebral fusion, Abnormal... ORPHA:96169
Diabetes Insipidus, Neurohypophyseal Type
Hypokalemia OMIM:304900
Aicardi-Goutières Syndrome
Scoliosis, Panniculitis, Chilblains, Multiple joint contractures, Myositis, Arthritis ORPHA:51
Colchicine Poisoning
Hypophosphatemia, Hypocalcemia, Hyponatremia, Abnormal blood ion concentration, Hypokalemia, Alop... ORPHA:31824
Pseudohypoparathyroidism Type 2
Prolonged QT interval ORPHA:94090
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Reduced ejection fraction, Right bundle branch block, Abnormal EKG ORPHA:268
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypocalcemia, Hypokalemia, Alopecia, Hypomagnesemia, Nail dystrophy OMIM:175500
Andersen Cardiodysrhythmic Periodic Paralysis
Scoliosis, Scapular winging, Joint laxity, Hypokalemia, Delayed skeletal maturation OMIM:170390
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Arrhythmia, Cardiac arrest ORPHA:168593
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Congestive heart failure, Shortened PR interval, Bradycardia, Cardiomyopathy OMIM:261740
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Orthostatic syncope, Orthostatic hypotension, Syncope ORPHA:230
Idiopathic Pulmonary Arterial Hypertension
Palpitations, Elevated pulmonary artery pressure, Increased pulmonary vascular resistance, Tricus... ORPHA:275766
Wild Type Abeta2M Amyloidosis
Congestive heart failure, Gastrointestinal hemorrhage, Arrhythmia ORPHA:85446
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Decreased circulating renin level, Hypokalemia, Left ventricular hypertrophy OMIM:615474
Danon Disease
Wolff-Parkinson-White syndrome, Arrhythmia, Dilated cardiomyopathy, Hypertrophic cardiomyopathy OMIM:300257
Stapes Ankylosis With Broad Thumbs And Toes
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger OMIM:184460
Timothy Syndrome
Bradycardia, Prolonged QT interval OMIM:601005
Lamb-Shaffer Syndrome
Scoliosis, Thoracic kyphosis, Fused cervical vertebrae ORPHA:530983
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Hypokalemia, Left ventricular hypertrophy ORPHA:320
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion, Recurrent otitis media, Upper limb muscle weakness ORPHA:370010
Carnitine Palmitoyl Transferase 1A Deficiency
Sudden cardiac death, Arrhythmia, Hypertrophic cardiomyopathy ORPHA:156
Familial Hyperaldosteronism Type Iii
Intracranial hemorrhage, Prolonged QT interval, Epistaxis, Hypertension ORPHA:251274
Spontaneous Periodic Hypothermia
Arrhythmia ORPHA:29822
Chronic Thromboembolic Pulmonary Hypertension
Palpitations, Right ventricular failure, Cardiac shunt, Increased pulmonary vascular resistance, ... ORPHA:70591
Thrombotic Thrombocytopenic Purpura
Myocardial infarction, Arrhythmia ORPHA:54057
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Arrhythmia, Prolonged QT interval, Abnormal EKG ORPHA:480864
Koolen-De Vries Syndrome
Scoliosis, Joint hypermobility, Kyphosis, Sacral dimple, Fair hair, Spondylolisthesis, Vertebral ... OMIM:610443
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilated cardiomyopathy, Ventricular fibrillation, Cardiac arrest, Ventricular tachycardia OMIM:300952
Microphthalmia, Syndromic 3
Vertebral hypoplasia, Vertebral fusion, Butterfly vertebrae, Hemivertebrae OMIM:206900
Dextrocardia
T-wave inversion, Abnormal EKG ORPHA:1666
Polyvalvular Heart Disease Syndrome
Pulmonic stenosis, Aortic valve stenosis, Arrhythmia, Tricuspid regurgitation ORPHA:228410
Generalized Pseudohypoaldosteronism Type 1
Pustule, Atopic dermatitis, Hyponatremia, Increased circulating renin level, Hyperkalemia, Osteom... ORPHA:171876
Rett Syndrome
Abnormal T-wave, Prolonged QTc interval OMIM:312750
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Recessive Mitochondrial Ataxia Syndrome
ST segment elevation ORPHA:94125
Hyperaldosteronism, Familial, Type Iii
Decreased circulating renin level, Hypokalemia OMIM:613677
Mitochondrial Dna Depletion Syndrome 11
Dilated cardiomyopathy, Arrhythmia OMIM:615084
Otopalatodigital Syndrome Type 2
Scoliosis, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, Synostosis of carpal bo... ORPHA:90652
Familial Isolated Restrictive Cardiomyopathy
Supraventricular arrhythmia, Abnormal left ventricular function, Atrial fibrillation, Tricuspid r... ORPHA:75249
Congenital Sialidosis Type 2
Telangiectasia, Abnormal EKG ORPHA:93400
Autoimmune Hemolytic Anemia
Arrhythmia, Congestive heart failure ORPHA:98375
Friedreich Ataxia And Congenital Glaucoma
Abnormal echocardiogram, Concentric hypertrophic cardiomyopathy, Congestive heart failure, Abnorm... OMIM:229310
Mosaic Trisomy 20
Scoliosis, Kyphosis, Vertebral segmentation defect, Vertebral fusion, Spinal canal stenosis, Fuse... ORPHA:1724
Infant Acute Respiratory Distress Syndrome
Hypotension, Tachycardia, Cardiac arrest, Bradycardia ORPHA:70587
Typhoid
Arrhythmia, Cardiac arrest, Gastrointestinal hemorrhage, Epistaxis ORPHA:99745
Ectopic Aldosterone-Producing Tumor
Decreased circulating renin level, Hypokalemia ORPHA:231632
Primary Fanconi Renotubular Syndrome
Decreased plasma carnitine, Hypophosphatemia, Hypouricemia, Hypophosphatemic rickets, Bicarbonatu... ORPHA:3337
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:610600
Heart Block, Congenital
Absent atrioventricular node, Atrial arrhythmia, Atrioventricular block, Mitral regurgitation, Ca... OMIM:234700
Friedreich Ataxia 2
Abnormal EKG, Abnormal echocardiogram, Concentric hypertrophic cardiomyopathy, Congestive heart f... OMIM:601992
Gitelman Syndrome
Chondrocalcinosis, Rhabdomyolysis, Increased circulating renin level, Hypokalemia, Hypomagnesemia OMIM:263800
Thyrotoxic Periodic Paralysis
Abnormal muscle fiber morphology, Increased intramyocellular lipid droplets, Mildly elevated crea... ORPHA:79102
Paragangliomas 3
Palpitations, Tachycardia, Hypertension associated with pheochromocytoma OMIM:605373
Frontometaphyseal Dysplasia
Scoliosis, Camptodactyly of finger, Limited wrist movement, Craniosynostosis, Dislocated radial h... ORPHA:1826
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:203400
Charcot-Marie-Tooth Disease Type 4C
Tibialis atrophy, Scapular winging, Decreased muscle mass, Abnormality of the vertebral column, P... ORPHA:99949
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Ventricular extrasystoles, Ventricular tachycardia, Atrioventricular block, Cardiac ... OMIM:212138
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Accelerated skeletal maturation, Hirsutism, Decreased circulating renin level, Hypokalemia, Alope... ORPHA:90795
Familial Hyperaldosteronism Type Ii
Hypokalemia ORPHA:404
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hyponatremia, Hypochloremia OMIM:214700
Hec Syndrome
Arrhythmia, Cardiomyopathy ORPHA:2119
Familial Hyperaldosteronism Type I
Hypokalemia ORPHA:403
Basal Cell Nevus Syndrome
Irregular ossification of hand bones, Scoliosis, Hemivertebrae, Vertebral fusion, Kyphoscoliosis,... OMIM:109400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Prolonged QT interval OMIM:615351
Heart-Hand Syndrome Type 2
Arrhythmia ORPHA:1350
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Scorpion Envenomation
Cardiogenic shock, Arrhythmia, Bundle branch block, Cardiac conduction abnormality, T-wave invers... ORPHA:466677
Tetrasomy 9P
Pericarditis, Sacral dimple, Joint dislocation, Myositis, Short neck, Arthritis ORPHA:3310
Autoimmune Hypoparathyroidism
Ventricular arrhythmia, Abnormal left ventricular function, Prolonged QT interval ORPHA:36913
Refsum Disease, Classic
Congestive heart failure, Cardiomyopathy, Arrhythmia OMIM:266500
Classical-Like Ehlers-Danlos Syndrome Type 1
Arrhythmia, Gastrointestinal hemorrhage ORPHA:230839
Familial Isolated Hypoparathyroidism
Arrhythmia ORPHA:2238
Primary Unilateral Adrenal Hyperplasia
Decreased circulating renin level, Hypokalemia ORPHA:231580
Polymyositis
Arrhythmia, Pericarditis, Gastrointestinal hemorrhage, Myocardial infarction, Abnormal atrioventr... ORPHA:732
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Retinal hemorrhage, Raynaud phenomenon, Supraventricular arrhythmia OMIM:611773
Robinow Syndrome, Autosomal Recessive 1
Scoliosis, Hypoplastic sacrum, Macroglossia, Long eyelashes, Thoracic hemivertebrae, Vertebral fu... OMIM:268310
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Arrhythmia, Ventricular tachycardia, Atrioventricular block, Ventricular fibrillation, Tachycardi... ORPHA:26793
Car T Cell Therapy-Associated Cytokine Release Syndrome
Reduced ejection fraction, Arrhythmia, Hypotension, Tachycardia, Heart block, Capillary leak ORPHA:542323
Rabson-Mendenhall Syndrome
Low anterior hairline, Macroglossia, Premature graying of hair, Thick hair, Hirsutism, Increased ... ORPHA:769
Congenitally Corrected Transposition Of The Great Arteries
Premature atrial contractions, Cardiac conduction abnormality, Supraventricular tachycardia with ... ORPHA:216694
Partial Atrioventricular Septal Defect
Palpitations, Angina pectoris, Atrial flutter, Mitral regurgitation, Atrial arrhythmia, Aortic va... ORPHA:1330
Familial Multiple Nevi Flammei
Intracranial hemorrhage, Pulmonary embolism, Arrhythmia ORPHA:624
Bartter Syndrome, Type 1, Antenatal
Chondrocalcinosis, Increased circulating renin level, Increased serum prostaglandin E2, Hypokalem... OMIM:601678
Cholera
Hypocalcemia, Hyponatremia, Abnormal blood ion concentration, Hypokalemia, Aspiration pneumonia ORPHA:173
Birk-Landau-Perez Syndrome
Limb hypertonia, Tubulointerstitial nephritis, Hyperkalemia OMIM:617595
Cocaine Intoxication
Ventricular arrhythmia, Ischemic stroke, Prolonged QRS complex, Supraventricular arrhythmia, Hypo... ORPHA:90068
Myhre Syndrome
Platyspondyly, Sparse hair, Skeletal muscle hypertrophy, Camptodactyly, Enlarged vertebral pedicl... OMIM:139210
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Mercury Poisoning
Hypokalemia, Interstitial pneumonitis ORPHA:330021
Lyme Disease
Atrioventricular block, Arrhythmia ORPHA:91546
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:177735
Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome
Scoliosis, Short neck, Vertebral fusion, Hemivertebrae ORPHA:94095
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:556037
Infantile Nephropathic Cystinosis
Rickets, Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia ORPHA:411629
Thiamine-Responsive Megaloblastic Anemia Syndrome
Arrhythmia, Cardiomyopathy OMIM:249270
Duane Retraction Syndrome
Short neck, Abnormal form of the vertebral bodies, Camptodactyly, Skeletal muscle atrophy, Spina ... ORPHA:233
American Trypanosomiasis
Arrhythmia, Congestive heart failure, Cardiomyopathy, Myocarditis ORPHA:3386
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Arrhythmia, Bradycardia, Cardiomyopathy OMIM:609286
Leber Optic Atrophy
Arrhythmia OMIM:535000
Distal Renal Tubular Acidosis
Rickets, Bone pain, Reduced bone mineral density, Osteomalacia, Hypokalemia, Increased susceptibi... ORPHA:18
Oculocerebrorenal Syndrome Of Lowe
Scoliosis, Hypercholesterolemia, Joint swelling, Joint stiffness, Hypoammonemia, Genu valgum, Joi... ORPHA:534
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dilated cardiomyopathy, Arrhythmia ORPHA:352447
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia OMIM:614736
Malignant Hyperthermia Of Anesthesia
Abnormality of masseter muscle, Exercise-induced rhabdomyolysis, Elevated creatine kinase after e... ORPHA:423
Arnold-Chiari Malformation Type I
Scoliosis, Anteriorly placed odontoid process, Cervical C2/C3 vertebral fusion, Abnormality of th... ORPHA:268882
Cushing Syndrome Due To Ectopic Acth Secretion
Osteoporosis, Recurrent fractures, Hypokalemia, Skeletal muscle atrophy, Generalized hirsutism, Acne ORPHA:99889
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Hypomagnesemia, Hypokalemia, Increased circulating renin level OMIM:612780
Thrombocytopenia-Absent Radius Syndrome
Scoliosis, Fused cervical vertebrae, Aplasia/Hypoplasia of the patella, Genu varum, Hip dislocati... ORPHA:3320
Hemochromatosis, Type 1
Congestive heart failure, Telangiectasia, Cardiomyopathy, Arrhythmia OMIM:235200
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Atrial fibrillation, Ventricular tachycardia, Atr... ORPHA:137675
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyponatremia, Hyperchloriduria, Hypochloremia OMIM:613090
Pseudohypoaldosteronism, Type Iia
Hyperkalemia OMIM:145260
Ataxia With Vitamin E Deficiency
Arrhythmia, Hypertrophic cardiomyopathy ORPHA:96
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:556030
Infantile Refsum Disease
Arrhythmia, Cardiomyopathy ORPHA:772
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Arrhythmia, Congestive heart failure, Hypertrophic cardiomyopathy ORPHA:1194
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Hypertrichosis, Spina bifida occulta, Low posterior hairline, Fused cervical vertebrae, Butterfly... OMIM:619227
Bartter Syndrome, Type 3
Hypokalemia, Hyperchloriduria, Increased circulating renin level OMIM:607364
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia OMIM:240200
Gitelman Syndrome
Palpitations, Low-to-normal blood pressure, ST segment depression, Prominent U wave, Abnormal T-w... ORPHA:358
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypokalemia ORPHA:369929
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Arrhythmia OMIM:273400
Simpson-Golabi-Behmel Syndrome
Scoliosis, Camptodactyly of finger, Macroglossia, Accelerated skeletal maturation, Short neck, Co... ORPHA:373
Fanconi Anemia, Complementation Group I
Short neck, Fused cervical vertebrae OMIM:609053
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypocalcemia, Hypouricemia, Elevated circulating creatinine concentration, Hypo... ORPHA:411634
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Peritonitis, Acute colitis, Elevated circulating creatinine concentration, Hyponatremia, Hypokale... ORPHA:90038
Pseudohypoaldosteronism Type 2
Hyperkalemia ORPHA:757
Subaortic Stenosis-Short Stature Syndrome
Arrhythmia ORPHA:3191
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Absent pubic hair, Absent axillary hair, Decreased circulating renin level, Hypokalemia, Delayed ... ORPHA:90793
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined
Abnormal EKG, Abnormal echocardiogram, Concentric hypertrophic cardiomyopathy, Congestive heart f... OMIM:302900
Systemic Capillary Leak Syndrome
Hypotension, Arrhythmia, Pericarditis, Myocarditis ORPHA:188
Thakker-Donnai Syndrome
Hemivertebrae, Short neck, Cervical C2/C3 vertebral fusion, Congenital diaphragmatic hernia ORPHA:1780
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Arrhythmia ORPHA:3201
Bartter Syndrome, Type 2, Antenatal
Chondrocalcinosis, Increased circulating renin level, Increased serum prostaglandin E2, Hypokalem... OMIM:241200
Lipodystrophy, Congenital Generalized, Type 4
Tachycardia, Atrial fibrillation, Prolonged QT interval, Bradycardia OMIM:613327
Carnitine Palmitoyltransferase I Deficiency
Arrhythmia OMIM:255120
Spondyloarthropathy, Susceptibility To, 1
Arrhythmia, Aortic regurgitation OMIM:106300
Kearns-Sayre Syndrome
Arrhythmia, Third degree atrioventricular block, Cardiomyopathy