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Gene: Cacna1d MGI:88293

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
calcium channel, voltage-dependent, L type, alpha 1D subunit
Synonyms:
8430418G19Rik,  Cacnl1a2,  Cav1.3alpha1,  D-LTCC,  Cchl1a2,  Cchl1a,  C79217

Order Alleles

IMPC Data Collections

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

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.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Cacna1d 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 Cacna1d by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Sinoatrial Node Dysfunction And Deafness
Syncope, Increased heart rate variability, Hearing impairment, Bradycardia, Abnormal QRS complex OMIM:614896
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Pulmonary arterial hypertension, Tinnitus, Hypertension, Intracranial hemorrhage, Second degree a... ORPHA:369929
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Pulmonary arterial hypertension, Hypertension, Second degree atrioventricular block, Hypokalemia,... OMIM:615474

The table below shows human diseases predicted to be associated to Cacna1d by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Sinoatrial Node Dysfunction And Deafness
Syncope, Increased heart rate variability, Hearing impairment, Bradycardia, Abnormal QRS complex OMIM:614896
Romano-Ward Syndrome
Prolonged QTc interval, Abnormal T-wave, Torsade de pointes, Syncope, Abnormal autonomic nervous ... ORPHA:101016
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Progressive Familial Heart Block, Type Ii
Syncope, Sudden cardiac death, Complete heart block with narrow QRS complexes, Sinus bradycardia,... OMIM:140400
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Deafness, Autosomal Dominant 9
Tinnitus, Abnormality of the vestibulocochlear nerve, Vertigo, Cochlear degeneration, Postlingual... OMIM:601369
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Cardiac arrest, Prolonged QTc interval, Left anterior fascicular block, Atrial fibrillation, Paro... OMIM:616117
Cardiomyopathy, Familial Hypertrophic, 6
Asymmetric septal hypertrophy, Prolonged QRS complex, Wolff-Parkinson-White syndrome, Syncope, Pa... OMIM:600858
Long Qt Syndrome 15
Cardiac arrest, Prolonged QTc interval, Syncope, Ventricular bigeminy, Polymorphic ventricular ta... OMIM:616249
Long Qt Syndrome 13
Cardiac arrest, Prolonged QTc interval, Reduced left ventricular ejection fraction, Torsade de po... OMIM:613485
Cardiomyopathy, Dilated, 1A
Second degree atrioventricular block, First degree atrioventricular block, Sudden cardiac death, ... OMIM:115200
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Ventricular tachycardia, Epsilon wave, Increased circulating creatine kinase MB isoform, Right ve... OMIM:610193
Long Qt Syndrome 9
Cardiac arrest, Syncope, Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Ventricular a... OMIM:611818
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, First degree atrioventricular block, Permanent atri... OMIM:617280
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Ventricular tachycardia, Ventricular couplet, Paroxysmal atrial fibrillation, Effort-induced poly... OMIM:604772
Cardiomyopathy, Dilated, 1E
Reduced left ventricular ejection fraction, Syncope, Palpitations, Supraventricular tachycardia, ... OMIM:601154
Progressive Familial Heart Block, Type Ia
Left anterior fascicular block, Syncope, Sudden cardiac death, Prolonged PR interval, Left poster... OMIM:113900
Atrial Fibrillation, Familial, 7
Prolonged QTc interval, Paroxysmal atrial fibrillation, Palpitations, Premature atrial contractio... OMIM:612240
Sick Sinus Syndrome 4
Paroxysmal atrial fibrillation, Syncope, Sinoatrial block, Abnormal QT interval, Sinus bradycardi... OMIM:619464
Atrial Standstill 1
Atrial cardiomyopathy, Paroxysmal atrial fibrillation, Atrial standstill, First degree atrioventr... OMIM:108770
Cardiac Arrhythmia, Ankyrin-B-Related
Syncope, Sudden cardiac death, Sinus bradycardia, Prolonged QT interval, Atrial fibrillation OMIM:600919
Familial Progressive Cardiac Conduction Defect
Heart block, Syncope, Arrhythmia, Vertigo, Bundle branch block, Congestive heart failure ORPHA:871
Cardiomyopathy, Dilated, 1D
Reduced left ventricular ejection fraction, Increased circulating brain natriuretic peptide conce... OMIM:601494
Long Qt Syndrome 5
Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Sinus bradycardia, Ven... OMIM:613695
Sick Sinus Syndrome 2
Cardiac arrest, Prolonged QTc interval, Paroxysmal atrial fibrillation, Torsade de pointes, Synco... OMIM:163800
Sick Sinus Syndrome 1
Absent P wave, Sick sinus syndrome, Sinus bradycardia, Atrioventricular block, Prolonged QT inter... OMIM:608567
Brugada Syndrome 2
Syncope, First degree atrioventricular block, Sudden cardiac death, Prolonged PR interval, Ventri... OMIM:611777
Nathalie Syndrome
Arrhythmia, Sensorineural hearing impairment ORPHA:2663
Long Qt Syndrome 8
Prolonged QTc interval, Syncope, Aborted sudden cardiac death, Sudden cardiac death, Sinus bradyc... OMIM:618447
Congenital Heart Defects, Multiple Types, 3
Right bundle branch block, Atrioventricular dissociation, Atrioventricular block, Tachycardia, At... OMIM:614954
Atrial Fibrillation, Familial, 3
Prolonged QTc interval, Paroxysmal atrial fibrillation, Syncope, Sudden cardiac death, Permanent ... OMIM:607554
Cardiomyopathy, Dilated, 1G
Ventricular tachycardia, Reduced left ventricular ejection fraction, Premature atrial contraction... OMIM:604145
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Hypsarrhythmia, Arrhythmia, Sick sinus syndrome, Prolonged PR interval, Bradycardia, Ventricular ... ORPHA:542306
Atrial Fibrillation, Familial, 9
Prolonged QTc interval, Paroxysmal atrial fibrillation, Syncope, Palpitations, Permanent atrial f... OMIM:613980
Atrial Fibrillation, Familial, 11
Prolonged QRS complex, Prolonged P wave, Atrial fibrillation, Reduced left ventricular ejection f... OMIM:614049
Heart-Hand Syndrome, Slovenian Type
Abnormal electrophysiology of sinoatrial node origin, Arrhythmia, Supraventricular arrhythmia, Di... ORPHA:168796
Myopathy, Myofibrillar, 1
Facial palsy, Restrictive cardiomyopathy, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Br... OMIM:601419
Cardiomyopathy, Dilated, 1V
Reduced left ventricular ejection fraction, Syncope, First degree atrioventricular block, Left bu... OMIM:613697
Aminoacylase 1 Deficiency
Cerebral atrophy, Sensorineural hearing impairment, Bradycardia, Cerebellar atrophy, Cerebral cor... OMIM:609924
Deafness-Oligodontia Syndrome
Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear ORPHA:3230
Atrial Fibrillation, Familial, 15
Supraventricular tachycardia, Atrial flutter, Atrial fibrillation, Sudden cardiac death OMIM:615770
Cardiac Conduction Defect
Syncope, Arrhythmia OMIM:115080
Brugada Syndrome 1
Cardiac arrest, Syncope, Supraventricular tachycardia with an accessory connection mediated pathw... OMIM:601144
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Nesidioblastosis, Large for ges... OMIM:601820
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Atrophy/Degeneration affecting the brainstem, Hearing impairment, Hypertrophic cardiomyopathy, Br... OMIM:616277
Cardiomyopathy, Familial Hypertrophic, 16
Asymmetric septal hypertrophy, Ventricular tachycardia, Reduced left ventricular ejection fractio... OMIM:613838
Long Qt Syndrome 10
T-wave alternans, Sudden cardiac death, Atrioventricular block, Prolonged QT interval, Atrial fib... OMIM:611819
Chronic Atrial And Intestinal Dysrhythmia
Mitral regurgitation, Pulmonic stenosis, Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial... OMIM:616201
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Absent brainstem auditory responses OMIM:616515
Atrial Standstill
Mobitz I atrioventricular block, Ventricular tachycardia, Reduced left ventricular ejection fract... ORPHA:1344
His Bundle Tachycardia
Arrhythmia, Junctional ectopic tachycardia, Cardiomyopathy ORPHA:3283
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Brugada Syndrome
Cardiac arrest, ST segment elevation, Syncope, Supraventricular tachycardia, Trifascicular block,... ORPHA:130
Deafness, Autosomal Dominant 85
Cochlear nerve hypoplasia, Sensorineural hearing impairment OMIM:620227
Atrial Septal Defect, Sinus Venosus Type
Right bundle branch block, Pulmonary arterial hypertension, Systolic heart murmur, Automatic atri... ORPHA:99105
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Mitral regurgitation... OMIM:604169
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiac arrest, Supraventricular tachycardia, Atrioventricular block, Dilated cardiomyopathy, Hyp... OMIM:612158
Cardiomyopathy, Familial Hypertrophic, 28
Asymmetric septal hypertrophy, Concentric hypertrophic cardiomyopathy, Reduced left ventricular e... OMIM:619402
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Absent P wave, Palpitations, First degree atrioventricular block, Sudden cardiac death, Elevated ... OMIM:310300
Schwannomatosis 1
Peripheral schwannoma, Vestibular schwannoma OMIM:162091
Atrial Fibrillation, Familial, 4
Paroxysmal atrial fibrillation, Palpitations, Premature atrial contractions, Permanent atrial fib... OMIM:611493
Worster-Drought Syndrome
Abnormal cranial nerve morphology, Sensorineural hearing impairment ORPHA:3465
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Right ventricular cardiomyopathy, Ventricular arrhythmia, T-wave inversion in the right precordia... OMIM:602087
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Syncope, Palpitations, Second degree atrioventricular block, Elevated circulating creatine kinase... OMIM:616812
Catecholaminergic Polymorphic Ventricular Tachycardia
Syncope, Vertigo, Ventricular tachycardia, Sudden cardiac death ORPHA:3286
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Bradycardia, Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia OMIM:611938
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Large for gestational age, Hypoglycemic seizures, Hyperinsulin... OMIM:256450
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Prominent antihelix, Simplified gyral pattern, Intention tremor, Atrioventricular block, Macrotia... OMIM:614407
Aapoaiv Amyloidosis
Left ventricular outflow tract obstruction, Abnormal cardiac ventricular function, Supravalvular ... ORPHA:439232
Deafness, Autosomal Recessive 2
Vertigo, Abnormal vestibular function, Sensorineural hearing impairment OMIM:600060
Cardiomyopathy, Familial Hypertrophic, 12
Ventricular tachycardia, Paroxysmal atrial fibrillation, Reduced left ventricular endsystolic dia... OMIM:612124
Atrial Fibrillation, Familial, 6
Atrial fibrillation, Reduced left ventricular ejection fraction, Elevated left ventricular end-di... OMIM:612201
Cardiomyopathy, Dilated, 1U
Syncope, Severely reduced left ventricular ejection fraction, First degree atrioventricular block... OMIM:613694
Familial Dilated Cardiomyopathy
Left ventricular systolic dysfunction, Mitral regurgitation, Reduced left ventricular ejection fr... ORPHA:217607
Kearns-Sayre Syndrome
Third degree atrioventricular block, Hearing impairment ORPHA:480
Intellectual Developmental Disorder With Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Cardiomyopathy, Familial Hypertrophic, 7
Apical hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Atrial fibrillation, Hypertro... OMIM:613690
Hyperinsulinemic Hypoglycemia, Familial, 6
Asymptomatic hyperammonemia, Hypoglycemic seizures, Failure to thrive, Hyperinsulinemic hypoglyce... OMIM:606762
Familial Short Qt Syndrome
Syncope, Palpitations, Shortened QT interval, Sudden cardiac death, Atrioventricular block, Ventr... ORPHA:51083
Atrial Septal Defect 6
Bradycardia, Atrial fibrillation OMIM:613087
Attrv30M Amyloidosis
Arrhythmia, Cardiomyopathy, Abnormal autonomic nervous system physiology, Atrioventricular block ORPHA:85447
Jervell And Lange-Nielsen Syndrome 1
Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Congenital sensorineur... OMIM:220400
Congenital Myopathy 5 With Cardiomyopathy
Arrhythmia, Severely reduced left ventricular ejection fraction, Elevated circulating creatine ki... OMIM:611705
Incessant Infant Ventricular Tachycardia
Cardiac arrest, Ventricular tachycardia, Prolonged QRS complex, Left ventricular systolic dysfunc... ORPHA:45453
Wolff-Parkinson-White Syndrome
Ventricular preexcitation with multiple accessory pathways, Prolonged QRS complex, Wolff-Parkinso... OMIM:194200
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Right ventricular cardiomyopathy, Ventricular arrhythmia, T-wave inversion in the right precordia... OMIM:602086
Combined Oxidative Phosphorylation Deficiency 39
Hypsarrhythmia, Cerebral atrophy, Simplified gyral pattern, Sinus bradycardia, Pachygyria, Cerebe... OMIM:618397
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy, Sensorineural hearing impairment OMIM:136600
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Syncope, Palpitations, Sudden cardiac death, Ventricular arrhyt... OMIM:610476
Atrial Fibrillation, Familial, 14
ST segment elevation, Hypertension, Paroxysmal atrial fibrillation, Prolonged PR interval OMIM:615378
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Left anterior fascicular block, Reduced left ventricular ejection fraction, Syncope, Arrhythmia, ... OMIM:181350
Cardiomyopathy, Dilated, 2B
Dilated cardiomyopathy, Congestive heart failure, Atrial fibrillation, Reduced left ventricular e... OMIM:614672
Long Qt Syndrome 16
Prolonged QTc interval, Bradycardia, Second degree atrioventricular block, T-wave alternans OMIM:618782
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death OMIM:107970
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Syncope, Arrhythmia, Atrioventricular block, Shortened PR interva... OMIM:604559
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Supraventricular arrhythmia, Optic atrophy, Cardiomyopathy ORPHA:320360
Cardiomyopathy, Dilated, 1J
Sudden cardiac death, Abnormal left ventricular function, Congestive heart failure, Sensorineural... OMIM:605362
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Reduced left ventricular ... OMIM:613243
Deafness, Autosomal Recessive 89
Vestibular hypofunction, Sensorineural hearing impairment OMIM:613916
Deafness, Autosomal Recessive 84B
Vestibular hypofunction, Sensorineural hearing impairment OMIM:614944
Deafness, Autosomal Recessive 18B
Vestibular hypofunction, Sensorineural hearing impairment OMIM:614945
Cardiomyopathy, Familial Hypertrophic, 18
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertrophic cardiomyopathy OMIM:613874
Deafness, Autosomal Dominant 81
Abnormal vestibular function, Sensorineural hearing impairment OMIM:619500
Deafness, Autosomal Dominant 74
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618140
Deafness, Autosomal Recessive 110
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618094
Deafness, Autosomal Recessive 7
Abnormal vestibular function, Sensorineural hearing impairment OMIM:600974
Deafness, Autosomal Dominant 56
Abnormal vestibular function, Sensorineural hearing impairment OMIM:615629
Deafness, Autosomal Recessive 1A
Abnormal vestibular function, Sensorineural hearing impairment OMIM:220290
Deafness, Autosomal Dominant 71
Abnormal vestibular function, Sensorineural hearing impairment OMIM:617605
Cardiomyopathy, Familial Hypertrophic, 20
Atrial fibrillation, Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy OMIM:613876
Paroxysmal Extreme Pain Disorder
Bradycardia, Tachycardia OMIM:167400
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia, Diffuse cerebral atrophy ORPHA:2898
Nathalie Syndrome
Abnormal EKG, Hearing impairment OMIM:255990
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Heart block, Syncope, Supraventricular tachycardia, Sinoatrial block, Sudden cardiac death, Atria... ORPHA:300751
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Bradycardia, Atrial fibrillation OMIM:614302
Desminopathy
Concentric hypertrophic cardiomyopathy, Sudden cardiac death, Supraventricular arrhythmia, Conges... ORPHA:98909
Cardiomyopathy, Dilated, 2G
Monomorphic ventricular tachycardia, Mitral regurgitation, Cerebral hemorrhage, Multifocal atrial... OMIM:619897
Cardiomyopathy, Dilated, 1Kk
Mitral regurgitation, Hypertrophic cardiomyopathy, Congestive heart failure, Increased left ventr... OMIM:615248
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
EEG abnormality, Simplified gyral pattern, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, B... OMIM:618815
Deafness, Mid-Tone Neural
Progressive hearing impairment, Sensorineural hearing impairment OMIM:124700
Deafness, Autosomal Dominant 49
Progressive hearing impairment, Sensorineural hearing impairment OMIM:608372
Deafness, X-Linked 4
High-frequency hearing impairment, Sensorineural hearing impairment OMIM:300066
Deafness, Autosomal Recessive 29
Sensorineural hearing impairment, Hearing impairment OMIM:614035
Deafness, Autosomal Recessive 57
Sensorineural hearing impairment, Hearing impairment OMIM:618003
Deafness, Autosomal Recessive 20
Sensorineural hearing impairment, Hearing impairment OMIM:604060
Deafness, Autosomal Recessive 13
Sensorineural hearing impairment, Hearing impairment OMIM:603098
Cardiomyopathy, Familial Hypertrophic, 10
Asymmetric septal hypertrophy, Ventricular tachycardia, Palpitations, Supraventricular tachycardi... OMIM:608758
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617182
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Small for gestational age, Hearing impairment, Hyperglycemia, Transient neonat... ORPHA:99886
Cardiomyopathy, Familial Hypertrophic, 26
Prolonged QTc interval, Left anterior fascicular block, Mitral regurgitation, Sudden cardiac deat... OMIM:617047
Atrioventricular Dissociation
Congenital atrioventricular dissociation OMIM:209600
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Cardiac arrest, Ventricular tachycardia, Syncope, Sudden cardiac death, Premature ventricular con... OMIM:614916
Hyperinsulinemic Hypoglycemia, Familial, 7
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypo... OMIM:610021
Congenital Myopathy 24
Facial palsy, Cardiomyopathy, Abnormal circulating creatine kinase concentration, First degree at... OMIM:617336
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia, Tachycardia, Sensorineural hearing impairment OMIM:221400
Atrial Septal Defect, Ostium Primum Type
Right bundle branch block, Pulmonary arterial hypertension, Third heart sound, Mitral regurgitati... ORPHA:99106
Jervell And Lange-Nielsen Syndrome
Prolonged QTc interval, Profound sensorineural hearing impairment, Bilateral sensorineural hearin... ORPHA:90647
Trimethylaminuria
Hypertension, Tachycardia OMIM:602079
Mitochondrial Complex I Deficiency, Nuclear Type 13
Cardiac arrest, Cerebral atrophy, Generalized dystonia, Decreased plasma carnitine, Hypertrophic ... OMIM:618235
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Cardiac arrest, Ventricular tachycardia, Syncope, Palpitations, Bidirectional ventricular tachyca... OMIM:614021
Long Qt Syndrome 14
Cardiac arrest, Prolonged QTc interval, T-wave alternans, Ventricular fibrillation, 2:1 atriovent... OMIM:616247
Cardiomyopathy, Familial Hypertrophic, 2
Right bundle branch block, Reduced left ventricular ejection fraction, Angina pectoris, Hypertrop... OMIM:115195
Deafness, Autosomal Recessive 15
Prelingual sensorineural hearing impairment, Sensorineural hearing impairment OMIM:601869
Deafness, Autosomal Recessive 79
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:613307
Deafness, Autosomal Dominant 22
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:606346
Deafness, Sensorineural, Autosomal-Mitochondrial Type
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:221745
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular tachycardia, Prolonged QRS complex, Right ventricular cardiomyopathy, Syncope, T-wave... OMIM:611528
Short Qt Syndrome 2
Syncope, Shortened QT interval, Sudden cardiac death, Ventricular fibrillation, Bradycardia, Atri... OMIM:609621
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Ventricular tachycardia, Prolonged QRS complex, Right ventricular cardiomyopathy, Palpitations, S... OMIM:604400
Deafness, Autosomal Recessive 67
Bilateral sensorineural hearing impairment, Sensorineural hearing impairment OMIM:610265
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Arrhythmia, Sudden cardiac death OMIM:212500
Atrial Fibrillation, Familial, 10
Paroxysmal atrial fibrillation, Tricuspid regurgitation, Atrial flutter, Permanent atrial fibrill... OMIM:614022
Jervell And Lange-Nielsen Syndrome 2
Torsade de pointes, Syncope, Sudden cardiac death, Premature ventricular contraction, Congenital ... OMIM:612347
Brugada Syndrome 3
Syncope, Shortened QT interval, Sudden cardiac death, Ventricular arrhythmia, Atrial fibrillation... OMIM:611875
Brugada Syndrome 7
ST segment elevation, Paroxysmal atrial fibrillation, Atrial flutter, Prolonged P wave, Permanent... OMIM:613120
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Decreased plasma free carnitine, Hyperalaninemia, Congestive heart failure, Bradycardia, Brain at... OMIM:619048
Myotonic Dystrophy 1
Cerebral atrophy, Facial diplegia, First degree atrioventricular block, Atrial flutter, Atrial fi... OMIM:160900
Cardiomyopathy, Familial Hypertrophic, 21
Atrial fibrillation, Hypertrophic cardiomyopathy OMIM:614676
Variegate Porphyria
Tachycardia OMIM:176200
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Hyperglutaminemia, Increased total bilirubin, Hyperprolinemia, B... OMIM:616299
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Heart block, Cardiomyopathy, Abnormal left ventricular function ORPHA:98912
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Prolonged PR interval, Atrial fibrillation OMIM:108900
Cardiomyopathy, Familial Hypertrophic, 14
Ventricular tachycardia, Left ventricular outflow tract obstruction, Severely reduced left ventri... OMIM:613251
Supravalvular Aortic Stenosis
Arrhythmia, Supravalvular aortic stenosis ORPHA:3193
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Reduced left ventricular ejection fraction, Arrhythmia, Supraventricular tachycardi... ORPHA:45452
Acute Peripheral Arterial Occlusion
Absent ankle pulse, Abnormality of venous physiology, Supraventricular tachycardia, Abnormal capi... ORPHA:90064
Coenzyme Q10 Deficiency, Primary, 5
Cerebral atrophy, Hyperalaninemia, Bradycardia, Cerebellar atrophy, Dystonia OMIM:614654
Combined Oxidative Phosphorylation Deficiency 54
Periventricular nodular heterotopia, Optic disc pallor, Tremor, Sensorineural hearing impairment,... OMIM:619737
Diabetes Mellitus, Ketosis-Prone
Diabetes mellitus, Beta-cell dysfunction, Insulin resistance OMIM:612227
Cardiomyopathy, Dilated, 1Oo
Reduced left ventricular ejection fraction, Second degree atrioventricular block, Premature ventr... OMIM:620247
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Decreased compound muscle action potential amplitude, Vestibular schwannoma OMIM:613641
Carnitine-Acylcarnitine Translocase Deficiency
Cardiac arrest, Ventricular tachycardia, Hyperammonemia, Hypotension, Cardiomyopathy, Elevated ci... OMIM:212138
Attrv122I Amyloidosis
Abnormal EKG, Reduced left ventricular ejection fraction, Arrhythmia, Abnormal autonomic nervous ... ORPHA:85451
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia OMIM:126320
Timothy Syndrome
Pulmonary arterial hypertension, Ventricular tachycardia, Atrioventricular block, Hypocalcemia, B... OMIM:601005
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Cardiomyopathy, Elevated circulating creatine kinase concentration, Supraventricular tachycardia OMIM:255100
Leber Hereditary Optic Neuropathy
Retinal telangiectasia, Arrhythmia, Postural tremor, Ventricular preexcitation, Optic atrophy ORPHA:104
Developmental And Epileptic Encephalopathy 101
Bradycardia, Third degree atrioventricular block, Opisthotonus OMIM:619814
Non-Functioning Paraganglioma
Hypercalcemia, Conductive hearing impairment, Cerebral hemorrhage, Sinus tachycardia, Palpitation... ORPHA:94080
Cardiomyopathy, Familial Hypertrophic, 17
Ventricular tachycardia, Palpitations, Angina pectoris, Hypertrophic cardiomyopathy, Atrial fibri... OMIM:613873
Atrial Fibrillation, Familial, 13
Aortic valve stenosis, Paroxysmal atrial fibrillation OMIM:615377
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy, Sensorineural hearing impairment OMIM:208750
Collagenoma, Familial Cutaneous
Vasculitis, Right ventricular cardiomyopathy, Cardiomyopathy, Tricuspid regurgitation, Congestive... OMIM:115250
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Arrhythmia, Bundle branch block ORPHA:1479
Ventricular Tachycardia, Familial
Cardiomyopathy, Right bundle branch block, Paroxysmal ventricular tachycardia, Sudden cardiac death OMIM:192605
Atrial Fibrillation, Familial, 12
Paroxysmal atrial fibrillation OMIM:614050
Cardiomyopathy, Dilated, 1P
Reduced systolic function, Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia OMIM:609909
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, Left bundle branch block, First degree atrioventricular block OMIM:615616
Short Qt Syndrome 1
Cardiac arrest, Paroxysmal atrial fibrillation, Syncope, Palpitations, Shortened QT interval, Sud... OMIM:609620
Mody
Pancreatic hypoplasia, Neonatal hypoglycemia, Abnormal circulating insulin concentration, Overwei... ORPHA:552
Atrial Fibrillation, Familial, 1
Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 5
Atrial fibrillation OMIM:611494
Atrial Fibrillation, Familial, 2
Atrial fibrillation OMIM:608988
Coenzyme Q10 Deficiency, Primary, 7
Bradycardia, Hypertrophic cardiomyopathy OMIM:616276
Congenital Heart Defects, Multiple Types, 2
Left ventricular outflow tract obstruction, Aortic regurgitation, Aortic valve stenosis, Congesti... OMIM:614980
Cardiomyopathy, Dilated, 2F
Ventricular tachycardia, Severely reduced left ventricular ejection fraction, Increased circulati... OMIM:619747
Danon Disease
Ventricular tachycardia, Wolff-Parkinson-White syndrome, Syncope, Severely reduced left ventricul... OMIM:300257
Hjv Or Hamp-Related Hemochromatosis
Elevated transferrin saturation, Hypogonadism, Diabetes mellitus, Congenital hepatic fibrosis, In... ORPHA:79230
Optic Atrophy 8
Mitral regurgitation, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Opti... OMIM:616648
Ventricular Fibrillation, Paroxysmal Familial, 1
Syncope, Tachycardia, Ventricular fibrillation OMIM:603829
Acitretin/Etretinate Embryopathy
Bilateral sensorineural hearing impairment, Cupped ear, Bradycardia, Third degree atrioventricula... ORPHA:40366
Muscular Dystrophy, Congenital, Lmna-Related
Paroxysmal atrial fibrillation, Elevated circulating creatine kinase concentration OMIM:613205
Cardiomyopathy, Familial Hypertrophic, 11
Cardiac arrest, Left anterior fascicular block, Ventricular tachycardia, Syncope, Palpitations, A... OMIM:612098
Abnormal Hair, Joint Laxity, And Developmental Delay
Recurrent otitis media, Mitral regurgitation, Sinus bradycardia, Tricuspid regurgitation OMIM:261990
Sudden Cardiac Failure, Infantile
Myocarditis, Sudden cardiac death, Congestive heart failure, Hypertrophic cardiomyopathy, Bradyca... OMIM:617222
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Palpitations, Premature ventricular contraction, Presyncope, Left bundle... OMIM:618920
Cardiomyopathy, Dilated, 1Ii
Ventricular tachycardia, Mitral regurgitation, Moderately reduced left ventricular ejection fract... OMIM:615184
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Abnormal B-type natriuretic peptide concentration, Angina pectoris, Brady... ORPHA:66529
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Sudden cardiac death, Left bundle branch block, Congestive heart failure, Increased left ventricu... OMIM:601493
Combined Oxidative Phosphorylation Deficiency 10
Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy, Bradycardia, Optic atrophy, Dystonia OMIM:614702
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Sinus Node Disease And Myopia
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin OMIM:182190
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Progressive hearing impairment, Cerebral atrophy, Arrhythmia, Cardiomyopathy, Bradycardia OMIM:609286
D-Glyceric Aciduria
Hypsarrhythmia, Nonketotic hyperglycinemia, Optic nerve hypoplasia, Opisthotonus, Sensorineural h... OMIM:220120
Dystonia 23
Limb dystonia, Torticollis, Axial dystonia, Arrhythmia, Writer's cramp, Head tremor, Cerebellar a... OMIM:614860
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Atrial fibrillation, Dilated cardiomyopathy OMIM:617912
Atrophoderma Vermiculata
Heart block ORPHA:79100
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
ST segment elevation, Ventricular tachycardia, Arrhythmia, Palpitations, Cardiomyopathy, Abnormal... ORPHA:263297
Long Qt Syndrome 3
Prolonged QTc interval, Ventricular tachycardia, Torsade de pointes, Syncope, Sudden cardiac deat... OMIM:603830
Coproporphyria, Hereditary
Hypertension, Tachycardia OMIM:121300
Tetanus
Hypertension, Autonomic bladder dysfunction, Abnormal autonomic nervous system physiology, Elevat... ORPHA:3299
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Congestive heart failure, Dilated cardiomyopathy, Ventricular ... OMIM:600884
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Posteriorly rotated ears, Hypertension, Abnormal autonomic nervous system physiology, Aganglionic... OMIM:613870
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Increased body weight, Pancreatic islet-cell hyperplasia, Reactive hypoglyc... ORPHA:276608
Ebstein Anomaly
Right bundle branch block, Atrial standstill, Sudden cardiac death, Ventricular preexcitation, At... OMIM:224700
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Abnormal circulating insulin concentration, Abnormal circulating selenium c... ORPHA:171706
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Progressive hearing impairment, Dystonia, Central hypothyroidism, Decr... ORPHA:453533
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Cardiac arrest, Syncope, Polymorphic ventricular tachycardia, Premature ventricular contraction, ... OMIM:615441
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial tachycardia, Paroxysmal atrial fibrillation, Shortened PR interval, Permanent a... OMIM:108950
Cardiomyopathy, Familial Hypertrophic, 4
Cardiac arrest, Reduced left ventricular ejection fraction, Syncope, First degree atrioventricula... OMIM:115197
Hydroxykynureninuria
Abnormal circulating tryptophan concentration, Tachycardia, Congenital sensorineural hearing impa... ORPHA:79155
Cardiomyopathy, Dilated, 1O
Ventricular tachycardia, Impaired myocardial contractility, Congestive heart failure, Dilated car... OMIM:608569
Familial Thyroid Dyshormonogenesis
Bradycardia, Neonatal hyperbilirubinemia, Sensorineural hearing impairment, Abnormal circulating ... ORPHA:95716
Atrial Septal Defect, Ostium Secundum Type
Pulmonary arterial hypertension, Mitral regurgitation, Systolic heart murmur, Right ventricular f... ORPHA:99103
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Abnormal autonomic nervous system physiology, EEG with burst suppression, Bradycardia, Neuronal l... OMIM:614498
Atrial Standstill 2
Atrial cardiomyopathy, Palpitations, Absent P wave, Atrial standstill, Cardiomyopathy, Hyperpepsi... OMIM:615745
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Heart block, Premature ventricular contraction ORPHA:1964
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Fasting hypoglycemia, Neonatal hypoglycemia, Truncal obesity, Hypoinsulinemia, Large for gestatio... OMIM:240900
Wild Type Attr Amyloidosis
Abnormal EKG, Arrhythmia, Autonomic bladder dysfunction, Abnormal autonomic nervous system physio... ORPHA:330001
Mahvash Disease
Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis, Increased glucagon level, Vertigo, Typ... OMIM:619290
Glutamine Deficiency, Congenital
Low-set ears, Hyperammonemia, Bradycardia, Brain atrophy, Hypoglutaminemia OMIM:610015
Hyperinsulinism Due To Ucp2 Deficiency
Decreased circulating free fatty acid level, Syncope, Palpitations, Increased C-peptide level, Hy... ORPHA:276556
Kearns-Sayre Syndrome
Arrhythmia, Cardiomyopathy, Third degree atrioventricular block, Sensorineural hearing impairment OMIM:530000
Cardiomyopathy, Dilated, 1Bb
Severely reduced left ventricular ejection fraction, Left bundle branch block, Congestive heart f... OMIM:612877
Paragangliomas 3
Palpitations, Tachycardia, Pulsatile tinnitus, Hypertension associated with pheochromocytoma OMIM:605373
Muscular Dystrophy, Becker Type
Abnormal EKG, Cardiomyopathy, Arrhythmia, Elevated circulating creatine kinase concentration OMIM:300376
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Fasting hypoglycemia, Large for gestational age, Excessive insulin response to glucagon test, Hep... ORPHA:276575
Long Qt Syndrome 2
Cardiac arrest, Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Ventri... OMIM:613688
Congenital Glucokinase-Related Hyperinsulinism
Hand tremor, Recurrent hypoglycemia, Fasting hyperinsulinemia, Abnormal circulating C-peptide con... ORPHA:79299
Insulinoma
Pituitary prolactin cell adenoma, Increased body weight, Fasting hyperinsulinemia, Recurrent hypo... ORPHA:97279
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiac arrest, Congestive heart failure, Sensorineural hearing impairment, Optic atrophy, Paroxy... ORPHA:49827
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Fasting hypoglycemia, Maternal diabetes, Large for gestational age, Excessive insulin response to... ORPHA:276580
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity OMIM:601382
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Premature ventricular contraction, Syncope, Tachycardia OMIM:192445
Brugada Syndrome 4
Syncope, Atrial fibrillation, Shortened QT interval OMIM:611876
Cardiomyopathy, Dilated, 1Y
Ventricular tachycardia, Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Con... OMIM:611878
Aortic Aneurysm, Familial Thoracic 9
Atrial fibrillation OMIM:616166
Heart-Hand Syndrome, Spanish Type
Sick sinus syndrome OMIM:140450
Gitelman Syndrome
Raynaud phenomenon, Abnormal T-wave, Tinnitus, Syncope, Palpitations, Low-to-normal blood pressur... ORPHA:358
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Ventricular tachycardia, Hyperammonemia, Tachycardia, Arrhythmia, Elevated circu... ORPHA:26793
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Sudd... ORPHA:98855
Cln3 Disease
Generalized cerebral atrophy/hypoplasia, Bradycardia, T-wave inversion, Optic atrophy, Cerebellar... ORPHA:228346
Glycogen Storage Disease Xv
ST segment elevation, Ventricular fibrillation, Paroxysmal ventricular tachycardia, T-wave invers... OMIM:613507
Naxos Disease
Arrhythmia, Cardiomyopathy, Sudden cardiac death, Vertigo, Congestive heart failure, Paroxysmal v... ORPHA:34217
Familial Isolated Restrictive Cardiomyopathy
Mitral regurgitation, Syncope, Pulmonary venous hypertension, Tricuspid regurgitation, Supraventr... ORPHA:75249
Ebstein Malformation Of The Tricuspid Valve
Right bundle branch block, Arrhythmia, Sudden cardiac death, Congestive heart failure, Cerebral i... ORPHA:1880
Acquired Methemoglobinemia
Syncope, Palpitations, Arrhythmia, Vertigo, Tachycardia ORPHA:464453
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Congestive heart failure, Increased left ventricular end-diastolic vo... OMIM:613424
Neonatal Lupus Erythematosus
Abnormal electrophysiology of sinoatrial node origin, Heart block, Arrhythmia, Atrioventricular b... ORPHA:398124
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Ventricular tachycardia, Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventri... OMIM:607450
Methanol Poisoning
Inflammatory arteriopathy, Cerebral hemorrhage, Intracranial hemorrhage, Hypertension, Hyperlipid... ORPHA:31825
Paragangliomas 1
Conductive hearing impairment, Palpitations, Hypertension associated with pheochromocytoma, Tachy... OMIM:168000
Long Qt Syndrome 6
Cardiac arrest, Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Ventri... OMIM:613693
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Cardiac arrest, Prolonged QTc interval, Ventricular tachycardia, Hyperammonemia, Neurodegeneratio... OMIM:616878
Illum Syndrome
Bradycardia, Calcinosis OMIM:208155
Histiocytoid Cardiomyopathy
Ventricular tachycardia, Wolff-Parkinson-White syndrome, Atrial fibrillation, Supraventricular ta... ORPHA:137675
Lyme Disease
Arrhythmia, Atrioventricular block ORPHA:91546
Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Sudd... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Sudd... ORPHA:98853
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Pulmonary arterial hypertension, Tinnitus, Hypertension, Intracranial hemorrhage, Second degree a... ORPHA:369929
Hyperinsulinism Due To Hnf1A Deficiency
Decreased circulating free fatty acid level, Syncope, Palpitations, Increased C-peptide level, Ta... ORPHA:324575
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Ventricular tachycardia, Congestive heart failure, Dilated cardiomyopathy OMIM:605676
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Fourth heart sound, Right axis deviation, Sinus tachycardia, Elevated jugular venous pressure, El... OMIM:255160
Hyperleucine-Isoleucinemia
Sensorineural hearing impairment, Failure to thrive OMIM:238340
Non-Syndromic Genetic Deafness
Abnormal vestibulo-ocular reflex, Moderate hearing impairment, Conductive hearing impairment, Pro... ORPHA:87884
Complete Atrioventricular Septal Defect
Abnormal EKG, Third heart sound, Systolic heart murmur, Elevated jugular venous pressure, Pulmona... ORPHA:1329
Idiopathic Congenital Hypothyroidism
Bradycardia, Neonatal hyperbilirubinemia ORPHA:95717
Peripartum Cardiomyopathy
Myocarditis, Pulmonary arterial hypertension, Abnormal T-wave, Mitral regurgitation, Ventricular ... ORPHA:563
Glossopharyngeal Neuralgia
Ear pain, Syncope, Cranial nerve compression, Abnormal glossopharyngeal nerve morphology, Bradyca... ORPHA:221098
X-Linked Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Sudd... ORPHA:98863
Hereditary Coproporphyria
Long hairs growing from helix of pinna, Tachycardia, Hyponatremia, Abnormal circulating porphyrin... ORPHA:79273
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Reduced left ventricular ejection fraction, Pulmonary venous hypertension,... ORPHA:75565
Malignant Hyperthermia, Susceptibility To, 1
Hypotension, Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia,... OMIM:145600
Cardiomyopathy, Familial Hypertrophic, 8
Cardiac arrest, Reduced left ventricular ejection fraction, Palpitations, Sudden cardiac death, R... OMIM:608751
Long Qt Syndrome 1
Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Ventricular fibrillati... OMIM:192500
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Cardiac arrest, Ventricular tachycardia, Prolonged QRS complex, Epsilon wave, Right ventricular c... OMIM:609040
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Palpitations, Tachycardia, Hypokalemia OMIM:188580
Arnold-Chiari Malformation Type I
Abnormality of the twelfth cranial nerve, Tinnitus, Functional abnormality of the inner ear, Cran... ORPHA:268882
Combined Oxidative Phosphorylation Defect Type 39
Hypsarrhythmia, Cerebral atrophy, Leg dystonia, EEG abnormality, Atrophy/Degeneration affecting t... ORPHA:565624
Maternally-Inherited Diabetes And Deafness
Abnormal circulating lipid concentration, Arrhythmia, Hypertension, Congestive heart failure, Sen... ORPHA:225
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Bilateral sensorineural hearing impairment, Arrhythmia, Hypertens... OMIM:540000
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Cerebral atrophy, Cerebellar atrophy, Opisthotonus, Corpus callo... OMIM:619272
Orthostatic Hypotension 1
Increased blood urea nitrogen, Atrial fibrillation, Orthostatic hypotension, Hypomagnesemia OMIM:223360
Familial Idiopathic Dilatation Of The Right Atrium
Paroxysmal atrial fibrillation, Reduced left ventricular ejection fraction, Syncope, Palpitations... ORPHA:1677
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Impaired glucose tolerance, Insulinoma, Type II diabetes ... OMIM:147630
Sick Sinus Syndrome 3, Susceptibility To
Sick sinus syndrome OMIM:614090
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Optic disc pallor, Tachycardia, Cerebellar atrophy, Interictal EEG abnormality ORPHA:79264
Infant Acute Respiratory Distress Syndrome
Cardiac arrest, Tachycardia, Bradycardia, Hypotension ORPHA:70587
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Tachycardia, Hypokalemia OMIM:613239
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia, Conductive hearing impairment, Cerebral hemorrhage, Sinus tachycardia, Palpitation... ORPHA:276621
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Arrhythmia, Elevated circulating creatine kinase concentration, Sensorineural hearing impairment,... OMIM:618098
Coronary Arterial Fistula
Abnormal EKG, Pulmonary arterial hypertension, Systolic heart murmur, Continuous heart murmur, Sy... ORPHA:2041
Wolfram-Like Syndrome
Delayed puberty, Abnormal pinna morphology, Diabetes mellitus, Primary gonadal insufficiency, Glu... ORPHA:411590
Deafness, Dystonia, And Cerebral Hypomyelination
Cerebral atrophy, Failure to thrive, Sensorineural hearing impairment, Optic atrophy, Cerebellar ... OMIM:300475
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Left ventricular systolic dysfunction, Elevated circulating creatine kinase concentration, Dilate... ORPHA:206559
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Abnormal atrioventricular conduction, Cardiomyopathy, Hearing impairment ORPHA:329336
Fixed Subaortic Stenosis
Systolic heart murmur, Mitral regurgitation, Pulmonic stenosis, Paroxysmal atrial fibrillation, L... ORPHA:3092
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Atrioventricular block, First degree atrioventricular block ORPHA:392
Pediatric-Onset Graves Disease
Sinus tachycardia, Palpitations, Hypertension, Tremor, Congestive heart failure, Atrial fibrillation ORPHA:525731
Mcleod Syndrome
Reduced haptoglobin level, Cardiomyopathy, Elevated circulating creatine kinase concentration, Di... OMIM:300842
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Hypsarrhythmia, Cerebral atrophy, Bilateral sensorineural hearing impairment, Generalized dystoni... OMIM:618321
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Multiple pancreatic beta-cell adenomas, Neonat... ORPHA:79644
Pulmonary Hypertension, Primary, 4
Pulmonary arterial hypertension, First degree atrioventricular block, Elevated pulmonary artery p... OMIM:615344
Snakebite Envenomation
Hypotension, Cardiogenic shock, Intracranial hemorrhage, Cerebral ischemia, Myocardial infarction... ORPHA:449285
Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricemia, Arrhythmia, Cardiomyopathy, Hypertension, Sensorineural hearing impairment ORPHA:3222
Ravine Syndrome
Abnormal auditory evoked potentials, Decreased body weight, Atrophy/Degeneration affecting the br... ORPHA:99852
Lipodystrophy, Congenital Generalized, Type 4
Tachycardia, Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Bradycardi... OMIM:613327
Ethylene Glycol Poisoning
Hypotension, Tachycardia, Hypertension, Hyperkalemia, Facial palsy, Congestive heart failure, Sho... ORPHA:31826
Rigid Spine Syndrome
Cardiac conduction abnormality ORPHA:97244
Pheochromocytoma--Islet Cell Tumor Syndrome
Cerebral hemorrhage, Congestive heart failure, Positive regitine blocking test, Tachycardia, Hype... OMIM:171420
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Congestive heart failure, Increased total bilirubin ORPHA:90037
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypotension, Reduced left ventricular ejection fraction, Heart block, Arrhythmia, Capillary leak,... ORPHA:542323
Long Qt Syndrome 12
Prolonged QTc interval, Syncope, Torsade de pointes, Ventricular fibrillation OMIM:612955
Thyrotoxic Periodic Paralysis
Palpitations, Impaired myocardial contractility, Second degree atrioventricular block, Transient ... ORPHA:79102
Autosomal Dominant Progressive External Ophthalmoplegia
Reduced left ventricular ejection fraction, Facial diplegia, Arrhythmia, Palpitations, Elevated c... ORPHA:254892
Adult-Onset Cervical Dystonia, Dyt23 Type
Torticollis, Axial dystonia, Limb tremor, Focal dystonia, Writer's cramp, Head tremor, Supraventr... ORPHA:420492
Refsum Disease
Heart block, Cardiomyopathy, Sensorineural hearing impairment ORPHA:773
Short Qt Syndrome 3
Palpitations, Tachycardia, Shortened QT interval OMIM:609622
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Right bundle branch block, Elevated circulating creatine kinase concentration OMIM:613158
Fabry Disease
Abnormal circulating lipid concentration, Mitral regurgitation, Telangiectasia of the skin, Arrhy... ORPHA:324
Cataract-Ataxia-Deafness Syndrome
Tremor, Adult onset sensorineural hearing impairment, Decreased nerve conduction velocity, Sensor... ORPHA:1368
Glycogen Storage Disease Ii
Subarachnoid hemorrhage, Wolff-Parkinson-White syndrome, Right axis deviation, Increased circulat... OMIM:232300
Hereditary Pulmonary Alveolar Proteinosis
Tachycardia, Abnormal circulating protein concentration, Elevated carcinoembryonic antigen level ORPHA:264675
Cardiomyopathy, Dilated, 1Nn
Mitral regurgitation, Reduced left ventricular ejection fraction, Abnormal ST segment, Congestive... OMIM:615916
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia, Exaggerated startle response OMIM:608800
Glycogen Storage Disease Of Heart, Lethal Congenital
ST segment elevation, Prolonged QRS complex, Hypotension, Cardiomyopathy, ST segment depression, ... OMIM:261740
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Papilledema, Elevated circulating creatine kinase concentration, Persistent fetal circulation, Hy... OMIM:618775
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Pulmonary arterial hypertension, EEG abnormality, Hypertension, Second degree atrioventricular bl... OMIM:617021
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Polymorphic and polytopic ventricular extrasystoles, Left ventricular noncompaction cardiomyopath... OMIM:115000
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Ventricular tachycardia, Elevated circulating creatine kinase concentration, Hyperammonemia, Dila... OMIM:600649
Scapuloperoneal Myopathy, X-Linked Dominant
Right bundle branch block, Elevated circulating creatine kinase concentration OMIM:300695
Familial Partial Lipodystrophy, Köbberling Type
Diabetes mellitus, Pancreatitis, Polycystic ovaries, Hepatomegaly, Hyperinsulinemia, Hepatic stea... ORPHA:79084
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Neonatal hypoglycemia, Increased body weight, Glycosuria, Pancreatic islet-... ORPHA:263455
Mercury Poisoning
Hypotension, Hypertension, Hypokalemia, Tremor, Tachycardia, Dystonia ORPHA:330021
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Absent brainstem auditory responses, Cardiomyopathy, Sensorineural he... ORPHA:1215
Myotonic Dystrophy 2
Palpitations, Elevated circulating creatine kinase concentration, Premature ventricular contracti... OMIM:602668
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Congenital sensorineural hearing impairment, Hyperinsulinemia, Failure to thrive OMIM:606528
X-Linked Spinocerebellar Ataxia Type 3
Optic atrophy, Sensorineural hearing impairment ORPHA:85297
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin OMIM:609438
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Wolff-Parkinson-White syndrome, Hearing impairment, Progressive sensorineural hearing impairment,... OMIM:601338
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Tachycardia, Highly elevated creatine kinase, Elevated circulating creatine kinase concentration,... ORPHA:368
Infantile Cerebellar-Retinal Degeneration
Decreased body weight, Athetosis, Failure to thrive, Sensorineural hearing impairment, Optic atro... OMIM:614559
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Arrhythmia, Decreased nerve conduction velocity ORPHA:99944
Combined Oxidative Phosphorylation Deficiency 17
Congestive heart failure, Sensorineural hearing impairment, Hypertrophic cardiomyopathy OMIM:615440
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Increased total bilirubin ORPHA:90036
Brugada Syndrome 5
ST segment elevation, Bundle branch block, Ventricular fibrillation OMIM:612838
Congenital Disorder Of Glycosylation, Type Im
Bradycardia, Increased circulating free fatty acid level, Hypsarrhythmia, Dilated cardiomyopathy OMIM:610768
Retinitis Pigmentosa
Conductive hearing impairment, Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus, Sensori... ORPHA:791
Tularemia
Tachycardia, Otitis media ORPHA:3392
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Obesity Due To Prohormone Convertase I Deficiency
Delayed puberty, Cholestasis, Central adrenal insufficiency, Decreased response to growth hormone... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Delayed puberty, Cholestasis, Central adrenal insufficiency, Decreased response to growth hormone... ORPHA:71526
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia, Conductive hearing impairment, Cerebral hemorrhage, Sinus tachycardia, Palpitation... ORPHA:29072
Deafness, Autosomal Dominant 77
Morphological abnormality of the inner ear, Tinnitus, Sensorineural hearing impairment OMIM:618915
Infantile Refsum Disease
Elevated circulating phytanic acid concentration, Arrhythmia, Cardiomyopathy, Hearing impairment,... ORPHA:772
Arterial Calcification, Generalized, Of Infancy, 2
Mitral regurgitation, Reduced left ventricular ejection fraction, Sinus tachycardia, Hypertension... OMIM:614473
Oculopharyngodistal Myopathy 1
Paroxysmal atrial fibrillation, Elevated circulating creatine kinase concentration, Tremor, Facia... OMIM:164310
Combined Oxidative Phosphorylation Deficiency 38
Low-set ears, Wolff-Parkinson-White syndrome, Posteriorly rotated ears, Hyperalaninemia, Hypertro... OMIM:618378
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Sick sinus syndrome, Premature atrial co... ORPHA:216694
Eisenmenger Syndrome
Abnormal B-type natriuretic peptide concentration, Tricuspid regurgitation, Supraventricular arrh... ORPHA:97214
Cardiomyopathy, Familial Hypertrophic, 25
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy OMIM:607487
Pseudo-Torch Syndrome 2
Bradycardia, Polymicrogyria, Cerebral hemorrhage, Gray matter heterotopia OMIM:617397
Neuroleptic Malignant Syndrome
Hypernatremia, Hyperuricemia, Hypotension, Arrhythmia, Hypertension, Abnormal autonomic nervous s... ORPHA:94093
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Left ventricular systolic dysfunction, Mitral regurgitati... OMIM:615373
Andersen-Tawil Syndrome
Prolonged QTc interval, Polymorphic and polytopic ventricular extrasystoles, Low-set ears, Abnorm... ORPHA:37553
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, EEG abnormality, Facial palsy, Sensorineural hearing impairm... OMIM:617519
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia ORPHA:226313
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:309930
Stiff-Person Syndrome
Exaggerated startle response, Hypertension, Opisthotonus, Tachycardia OMIM:184850
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Low-set ears, Neonatal insulin-dependent diabetes mellitus, Optic nerve hypoplasia, Aplasia/Hypop... ORPHA:65288
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Mitral regurgitation, Tricuspid regurgitation, Aortic valve stenosis, Congestive heart failure, M... ORPHA:324410
Galactokinase Deficiency
Hepatosplenomegaly, Small for gestational age, Hypergalactosemia, Hepatomegaly, Increased level o... ORPHA:79237
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Raynaud phenomenon, Elevated circulating creatine kinase concentration, Supraventricular arrhythm... OMIM:611773
Double Outlet Right Ventricle
Abnormality of cartilage of external ear, Pulmonic stenosis, Hypocalcemia, Heart murmur, Tachycardia ORPHA:3426
16P12.1P12.3 Triplication Syndrome
Low-set ears, Tachycardia, Large earlobe ORPHA:485405
Hemangioma-Thrombocytopenia Syndrome
Ventricular arrhythmia, Hyperkalemia OMIM:141000
Relapsing Fever
Hypotension, Increased total bilirubin, Elevated circulating C-reactive protein concentration, Ep... ORPHA:91547
Paragangliomas 4
Palpitations, Tachycardia, Pulsatile tinnitus, Hypertension associated with pheochromocytoma OMIM:115310
Brugada Syndrome 6
Cardiac arrest, ST segment elevation, Ventricular fibrillation OMIM:613119
Bdv Syndrome
Delayed puberty, Cryptorchidism, Reduced TSH response to thyrotrophin-releasing hormone stimulati... OMIM:619326
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal OMIM:618013
Steinert Myotonic Dystrophy
Prolonged QRS complex, Left ventricular systolic dysfunction, Hypercholesterolemia, Facial dipleg... ORPHA:273
Perlman Syndrome
Low-set ears, Cryptorchidism, Posteriorly rotated ears, Hepatomegaly, Hyperinsulinemia, Abnormal ... ORPHA:2849
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Pulmonary arterial hypertension, Hypertension, Second degree atrioventricular block, Hypokalemia,... OMIM:615474
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... OMIM:609968
Naxos Disease
Prolonged QRS complex, Right ventricular cardiomyopathy, Syncope, Palpitations, Arrhythmia, Sudde... OMIM:601214
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Arrhythmia, Pachygyria, Atrioventricular block ORPHA:93317
Donohue Syndrome
Fasting hypoglycemia, Low-set ears, Cholestasis, Postprandial hyperglycemia, Pancreatic islet-cel... OMIM:246200
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Abnormality of somatosenso... ORPHA:320401
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... OMIM:600791
Loeffler Endocarditis
Left ventricular diastolic dysfunction, Mitral regurgitation, Arrhythmia, Palpitations, Aortic re... ORPHA:75566
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Decreased testicular size, Cryptorchidism, Polycystic ovaries, Hyperinsulinemia, Hypergonadotropi... ORPHA:3085
Congenital Fibrinogen Deficiency
Tachycardia, Opisthotonus, Internal hemorrhage ORPHA:335
Partial Atrioventricular Septal Defect
Mitral regurgitation, Syncope, Palpitations, Transient ischemic attack, Angina pectoris, Aortic v... ORPHA:1330
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormality of blood circulation, Left ventricular outflow tract obstruction, Cardiac shunt, Cong... ORPHA:860
Hyperoxaluria, Primary, Type I
Raynaud phenomenon, Optic neuropathy, Intermittent claudication, Arterial occlusion, Atrioventric... OMIM:259900
Familial Isolated Dilated Cardiomyopathy
Elevated circulating creatine kinase concentration, Sensorineural hearing impairment, Dilated car... ORPHA:154
Hyperinsulinemic Hypoglycemia, Familial, 8
Hyperammonemia, Increased C-peptide level, Hypoglycemic seizures, Hyperinsulinemia, Elevated circ... OMIM:620211
Superficial Siderosis
Bilateral sensorineural hearing impairment, Atrophy of the spinal cord, Atrophy/Degeneration affe... ORPHA:247245
Short Qt Syndrome 7
Cardiac arrest, Syncope, Shortened QT interval, Sudden cardiac death, Ventricular fibrillation OMIM:620231
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Sinus bradycardia OMIM:619482
Middle Ear Neuroendocrine Tumor
Tinnitus, Abnormality of the auditory canal, Facial palsy, Sensorineural hearing impairment, Carc... ORPHA:100084
Mohr-Tranebjaerg Syndrome
Dystonia, Global brain atrophy, Absent brainstem auditory responses, Generalized dystonia, Focal ... ORPHA:52368
Congenital-Onset Steinert Myotonic Dystrophy
Bundle branch block, First degree atrioventricular block ORPHA:589821
Adenine Phosphoribosyltransferase Deficiency
Hypertension, Atrial fibrillation ORPHA:976
Necrotizing Enterocolitis
Bradycardia, Hyponatremia, Shock, Hypotension ORPHA:391673
Cap Myopathy
Reduced systolic function, Facial palsy, Sinus tachycardia ORPHA:171881
Hyperinsulinism Due To Insr Deficiency
Recurrent hypoglycemia, Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, H... ORPHA:263458
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Mitral regurgitation, Global brain atrophy, First degree atrioventricular block, Aortic regurgita... OMIM:620066
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Papilledema, Hypertension, Atrioventricular block ORPHA:371428
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Polymicrogyria, Hyperammonemia, Decreased plasma free carnitine, Heart block, Arrhythmia, Cardiom... ORPHA:228308
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Syncope, Ventricular tachycardia, Dilated cardiomyopathy OMIM:615821
Charcot-Marie-Tooth Disease, Type 4K
Hearing impairment, Peripheral demyelination, Axonal loss, Sensorineural hearing impairment, Dyst... OMIM:616684
Autoimmune Hemolytic Anemia, Warm Type
Tachycardia, Congestive heart failure ORPHA:90033
Pheochromocytoma
Cerebral hemorrhage, Congestive heart failure, Positive regitine blocking test, Tachycardia, Hype... OMIM:171300
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Premature ventricular contraction, Sudden cardiac death OMIM:604401
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Jaundice, Hyperuricemia, Diabetes mellitus, Hearing impairment, Abnormality of exocrine pancreas ... ORPHA:93111
Deafness, X-Linked 2
Conductive hearing impairment, Stapes ankylosis, Mixed hearing impairment, Progressive sensorineu... OMIM:304400
Serotonin Syndrome
Hypotension, Hypertension, Tremor, Tachycardia, Abnormality of the autonomic nervous system ORPHA:43116
Autoimmune Hypoparathyroidism
Hypocalcemic seizures, Hyperphosphatemia, Abnormal left ventricular function, Laryngeal dystonia,... ORPHA:36913
Absence Of The Pulmonary Artery
Abnormal EKG, Pulmonary arterial hypertension, Systolic heart murmur, Reduced left ventricular ej... ORPHA:980
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Arrhythmia, Ventricular bigeminy, Elevated circulating creatine kinase concentration, Facial pals... OMIM:610131
Porphyria Variegata
Abnormal circulating porphyrin concentration, Hypertension, Abnormal autonomic nervous system phy... ORPHA:79473
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Low-set ears, Hypertension, Bradycardia, Tachycardia, Retinal hemorrhage OMIM:614653
3-Methylglutaconic Aciduria, Type Viii
Cerebral atrophy, Tremor, Sensorineural hearing impairment, Bradycardia, Dystonia OMIM:617248
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Left ventricular outflow tract obstruction, Low-output congestive heart failure, Elevated circula... ORPHA:308552
Ventricular Fibrillation, Paroxysmal Familial, 2
Premature ventricular contraction, Ventricular fibrillation, Sudden cardiac death OMIM:612956
Sheehan Syndrome
Palpitations, Vertigo, Sensorineural hearing impairment, Orthostatic hypotension, Bradycardia, Hy... ORPHA:91355
Solitary Fibrous Tumor
Abnormality of the peritoneum, Neoplasm of the liver, Recurrent hypoglycemia, Hypophosphatemic ri... ORPHA:2126
Cirrhotic Cardiomyopathy
Left ventricular diastolic dysfunction, Third heart sound, Global systolic dysfunction, Reduced l... ORPHA:57777
Rhizomelic Chondrodysplasia Punctata, Type 5
Sinus tachycardia OMIM:616716
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Low-set ears, Conductive hearing impairment, Pulmonic stenosis, Arrhythmia, Posteriorly rotated e... OMIM:617877
Deafness, Autosomal Dominant 50
Progressive hearing impairment, Tinnitus, Sensorineural hearing impairment, Progressive sensorine... OMIM:613074
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin resistance, Hyperin... ORPHA:411593
Encephalitis Lethargica
Bradycardia, Tremor ORPHA:83600
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia OMIM:229700
Obesity Due To Congenital Leptin Deficiency
Hypoplasia of the ovary, Decreased testicular size, Obesity, Hyperinsulinemia, Hypergonadotropic ... ORPHA:66628
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular tachycardia, Hyperammonemia, Hypotension, Arrhythmia, Cardiomyopathy, Elevated circul... ORPHA:159
Cholera
Hypovolemic shock, Abnormal blood ion concentration, Hypotension, Hypokalemia, Hypocalcemia, Tach... ORPHA:173
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Hypertension, Increased blood urea nitrogen, Orthostatic hypotension, Tachycardia, Elevated circu... OMIM:223900
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG, Optic atrophy, Cardiomyopathy ORPHA:1177
Thiamine-Responsive Megaloblastic Anemia Syndrome
Arrhythmia, Optic atrophy, Sensorineural hearing impairment, Cardiomyopathy OMIM:249270
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy OMIM:125250
Refsum Disease, Classic
Elevated circulating phytanic acid concentration, Arrhythmia, Cardiomyopathy, Congestive heart fa... OMIM:266500
Obesity Due To Leptin Receptor Gene Deficiency
Hypoplasia of the ovary, Decreased testicular size, Obesity, Hyperinsulinemia, Hypergonadotropic ... ORPHA:179494
Plin1-Related Familial Partial Lipodystrophy
Polycystic ovaries, Hepatic fibrosis, Hyperinsulinemia, Hypertriglyceridemia, Hepatic steatosis, ... ORPHA:280356
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bilateral facial palsy, Right bundle branch block, Elevated circulating creatine kinase concentra... ORPHA:254361
Dietary Iron Overload Disease
Peritonitis, Hepatocellular carcinoma, Elevated transferrin saturation, Diabetes mellitus, Increa... ORPHA:139507
Brugada Syndrome 9
ST segment elevation, Palpitations, Prolonged QT interval, Presyncope OMIM:616399
Mucopolysaccharidosis Type 3
Chronic otitis media, Conductive hearing impairment, Abnormality of the middle ear ossicles, Mixe... ORPHA:581
Congenital Disorder Of Glycosylation, Type It
Pulmonary arterial hypertension, Aborted sudden cardiac death, Elevated circulating creatine kina... OMIM:614921
Gitelman Syndrome
Ventricular tachycardia, Increased circulating renin level, Hypotension, Palpitations, Hypokalemi... OMIM:263800
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Neonatal hypoglycemia, Abnormal circulating insulin concentration, Truncal obesity, Nonketotic hy... ORPHA:293964
Scorpion Envenomation
Myocarditis, Increased circulating creatine kinase MB isoform, Arrhythmia, Hypertension, Increase... ORPHA:466677
Infantile Krabbe Disease
Abnormal heart rate variability, Diffuse cerebral atrophy, Decreased nerve conduction velocity, H... ORPHA:206436
Heart Block, Congenital
Mitral regurgitation, Cardiomyopathy, Atrioventricular block, Absent atrioventricular node, Atria... OMIM:234700
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Atrophy/Degeneration affecting the brainstem, Elevated circulating creatine kinase concentration,... OMIM:616479
Bangstad Syndrome
EEG abnormality, Primary gonadal insufficiency, Increased circulating cortisol level, Abnormality... ORPHA:1227
20P12.3 Microdeletion Syndrome
Thickened helices, Wolff-Parkinson-White syndrome, Microtia ORPHA:261295
Familial Dysautonomia
Hypertension, Orthostatic hypotension, Optic atrophy, Tachycardia, Hyponatremia ORPHA:1764
Malignant Hyperthermia Of Anesthesia
Ventricular tachycardia, High-output congestive heart failure, Supraventricular tachycardia, Hype... ORPHA:423
Renal Nutcracker Syndrome
Syncope, Tachycardia, Abnormal autonomic nervous system physiology, Orthostatic hypotension ORPHA:71273
Hyperthyroidism, Nonautoimmune
Tachycardia, Increased circulating thyroglobulin level OMIM:609152
Cocaine Intoxication
Subarachnoid hemorrhage, Prolonged QRS complex, Diffuse alveolar hemorrhage, Hypotension, Tachyca... ORPHA:90068
Proximal Spinal Muscular Atrophy
Bradycardia, Facial diplegia ORPHA:70
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Hypertension, Optic disc pallor, Tremor, Shortened PR interval, O... OMIM:614947
Meier-Gorlin Syndrome 7
Low-set ears, Heart block, Second degree atrioventricular block, Hearing impairment, Sensorineura... OMIM:617063
Hypothyroidism Due To Tsh Receptor Mutations
Bradycardia, Neonatal hyperbilirubinemia, Increased circulating thyroglobulin level ORPHA:90673
Cardiogenic Shock
Cardiac arrest, Abnormal EKG, ST segment elevation, Mitral regurgitation, Hypotension, Elevated j... ORPHA:97292
Atrial Septal Defect, Coronary Sinus Type
Pulmonary arterial hypertension, Systolic heart murmur, Syncope, Palpitations, Arrhythmia, Abnorm... ORPHA:99104
Cardiomyopathy, Dilated, 1S
Pulmonary arterial hypertension, Ventricular tachycardia, Mitral regurgitation, Reduced left vent... OMIM:613426
Fructose-1,6-Bisphosphatase Deficiency
Hyperalaninemia, Tachycardia, Neonatal hyperbilirubinemia, Hyperuricemia ORPHA:348
Severe Neurodegenerative Syndrome With Lipodystrophy
Limb dystonia, Cerebral atrophy, Hepatomegaly, Cirrhosis, Hyperinsulinemia, Hypertriglyceridemia,... ORPHA:363400
Arrhythmogenic right ventricular dysplasia, familial, 2
Right ventricular cardiomyopathy, Effort-induced polymorphic ventricular tachycardia OMIM:600996
Craniometaphyseal Dysplasia
Facial palsy, Abnormal cranial nerve morphology, Conductive hearing impairment, Sensorineural hea... ORPHA:1522
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Hyperuricemia, Polycystic ovaries, Cirrhosis, Hyperinsulinemia, Hyperglycemia,... OMIM:604367
Leopard Syndrome 1
Low-set ears, Protruding ear, Pulmonic stenosis, Posteriorly rotated ears, Bundle branch block, S... OMIM:151100
Polymyositis
Vasculitis, Arrhythmia, Elevated circulating creatine kinase concentration, Gastrointestinal hemo... ORPHA:732
Visceral Neuropathy, Familial, 2, Autosomal Recessive
Short-segment aganglionic megacolon, Sensorineural hearing impairment, Peripheral axonal neuropathy OMIM:619465
Hypertriglyceridemia 1
Hypertriglyceridemia, Hypopituitarism, Glucose intolerance, Increased VLDL cholesterol concentration OMIM:145750
Branchiootic Syndrome 1
Low-set ears, Cochlear malformation, Mixed hearing impairment, Cupped ear, Sensorineural hearing ... OMIM:602588
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Abnormal T-wave, Tinnitus, Palpitations, Intracranial hemorrhage, Hypertension, Hypokalemia, Epis... ORPHA:231625
Obsolete: Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Left anterior fascicular block, Arrhythmia, Hypertension, Elevated circulating creatine kinase co... ORPHA:437572
Charcot-Marie-Tooth Disease, Type 4C
Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Hearing impairment,... OMIM:601596
Porphyria, Acute Intermittent
Hypertension, Tachycardia OMIM:176000
Isolated Permanent Neonatal Diabetes Mellitus
Pancreatic hypoplasia, Neonatal insulin-dependent diabetes mellitus, Glycosuria, Hearing impairme... ORPHA:99885
Sepsis In Premature Infants