Registered for phenotyping at IMPC

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

Gene Summary

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

IMPC Data Collections

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

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.

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
Abnormal QRS complex, Bradycardia, Hearing impairment, Increased heart rate variability, Syncope OMIM:614896
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypokalemia, Hypertension, Athetosis, Pulmonary arterial hypertension, Tinnitus, Epistaxis, Intra... ORPHA:369929
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypokalemia, Decreased circulating renin level, Athetosis, Hypertension, Pulmonary arterial hyper... 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
Abnormal QRS complex, Bradycardia, Hearing impairment, Increased heart rate variability, Syncope OMIM:614896
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Romano-Ward Syndrome
Torsade de pointes, Hypokalemia, Prolonged QTc interval, Abnormal autonomic nervous system physio... ORPHA:101016
Progressive Familial Heart Block, Type Ii
Syncope, Complete heart block with narrow QRS complexes, Sinus bradycardia, Atrioventricular bloc... OMIM:140400
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Deafness, Autosomal Dominant 9
Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment, Vertigo... OMIM:601369
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr... OMIM:616117
Cardiomyopathy, Familial Hypertrophic, 6
Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril... OMIM:600858
Long Qt Syndrome 13
Congestive heart failure, Reduced left ventricular ejection fraction, Prolonged QTc interval, Syn... OMIM:613485
Long Qt Syndrome 15
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... OMIM:616249
Cardiomyopathy, Dilated, 1A
Congestive heart failure, Atrial flutter, Atrial fibrillation, Sinus bradycardia, Ventricular arr... OMIM:115200
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur... OMIM:610193
Long Qt Syndrome 9
Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia... OMIM:611818
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation, First d... OMIM:617280
Sick Sinus Syndrome 4
Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma... OMIM:619464
Optic Atrophy 16
Sensorineural hearing impairment, Paroxysmal tachycardia, Temporal optic disc pallor OMIM:620629
Familial Atrial Fibrillation
Atrial fibrillation, Vertigo, Syncope, Palpitations, Myocardial infarction ORPHA:334
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Sick sinus syndrome, Ventricular couplet, Syncope, Effort-induced... OMIM:604772
Progressive Familial Heart Block, Type Ia
Complete heart block with broad QRS complexes, Left anterior fascicular block, Left posterior fas... OMIM:113900
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ... OMIM:612240
Cardiomyopathy, Dilated, 1D
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... OMIM:601494
Cardiomyopathy, Dilated, 1E
Atrial flutter, Left bundle branch block, Reduced left ventricular ejection fraction, Atrial fibr... OMIM:601154
Atrial Standstill 1
Paroxysmal atrial fibrillation, Premature atrial contractions, Ventricular escape rhythm, First d... OMIM:108770
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sinus bradycardia, Syncope, Sudden cardiac death OMIM:600919
Familial Progressive Cardiac Conduction Defect
Congestive heart failure, Heart block, Vertigo, Bundle branch block, Arrhythmia, Syncope ORPHA:871
Long Qt Syndrome 5
Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,... OMIM:613695
Catecholaminergic Polymorphic Ventricular Tachycardia
Palpitations, Atrial fibrillation, Vertigo, Supraventricular tachycardia, Ventricular fibrillatio... ORPHA:3286
Sick Sinus Syndrome 2
Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P... OMIM:163800
Sick Sinus Syndrome 1
Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove... OMIM:608567
Brugada Syndrome 2
Right bundle branch block, Ventricular fibrillation, Prolonged PR interval, Syncope, First degree... OMIM:611777
Nathalie Syndrome
Sensorineural hearing impairment, Arrhythmia ORPHA:2663
Long Qt Syndrome 8
Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope, Aborted sudden card... OMIM:618447
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Right bundle branch block, Atrioventricular block, Atrioventric... OMIM:614954
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Prolonged QTc interval, Atrial fibrillation, Permanent atrial fib... OMIM:607554
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Sick sinus syndrome, Bradycardia, Hypsarrhythmia, Ventricular escape rhythm, Arrhythmia, Prolonge... ORPHA:542306
Cardiomyopathy, Dilated, 1G
Congestive heart failure, Reduced left ventricular ejection fraction, Atrial fibrillation, Premat... OMIM:604145
Atrial Fibrillation, Familial, 11
Atrial fibrillation, Prolonged QRS complex, Reduced left ventricular ejection fraction, Prolonged... OMIM:614049
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Syncope, P... OMIM:613980
Cardiomyopathy, Familial Hypertrophic, 30, Atrial
Atrial flutter, Increased circulating brain natriuretic peptide concentration, Reduced left ventr... OMIM:620734
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Arrhythmia, Dilated cardiomyop... ORPHA:168796
Cardiomyopathy, Dilated, 1V
Congestive heart failure, Left bundle branch block, Reduced left ventricular ejection fraction, A... OMIM:613697
Myopathy, Myofibrillar, 1
Bradycardia, Restrictive cardiomyopathy, Facial palsy, Hypertrophic cardiomyopathy, Dilated cardi... OMIM:601419
Deafness-Oligodontia Syndrome
Sensorineural hearing impairment, Vertigo, Abnormality of the inner ear ORPHA:3230
Aminoacylase 1 Deficiency
Cerebral atrophy, Bradycardia, Sensorineural hearing impairment, Cerebellar atrophy, Cerebral cor... OMIM:609924
Atrial Fibrillation, Familial, 15
Atrial fibrillation, Atrial flutter, Sudden cardiac death, Supraventricular tachycardia OMIM:615770
Cardiac Conduction Defect
Syncope, Arrhythmia OMIM:115080
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Nesidioblastosis, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancrea... OMIM:601820
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Reduced left ventricular ejection fraction, Palpitations, Atrial fibril... OMIM:613838
Brugada Syndrome 1
Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria... OMIM:601144
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Absent brainstem auditory responses OMIM:616515
Long Qt Syndrome 10
Prolonged QT interval, Atrial fibrillation, T-wave alternans, Atrioventricular block, Sudden card... OMIM:611819
Chronic Atrial And Intestinal Dysrhythmia
Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial fibrillation, Pulmonic stenosis, Ventric... OMIM:616201
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar... ORPHA:3282
Atrial Standstill
Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection... ORPHA:1344
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Deafness, Autosomal Dominant 85
Sensorineural hearing impairment, Cochlear nerve hypoplasia OMIM:620227
Brugada Syndrome
Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc... ORPHA:130
His Bundle Tachycardia
Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia ORPHA:3283
Left Ventricular Noncompaction 1
Congestive heart failure, Palpitations, Atrial fibrillation, Noncompaction cardiomyopathy, Left v... OMIM:604169
Cardiomyopathy, Familial Hypertrophic, 28
Systolic anterior motion of the mitral valve, Reduced left ventricular ejection fraction, Concent... OMIM:619402
Atrial Septal Defect, Sinus Venosus Type
Congestive heart failure, Atrial flutter, Atrial fibrillation, Supraventricular arrhythmia, Supra... ORPHA:99105
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Hypertrophic cardiomyopathy, A... OMIM:612158
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Bradycardia, Atrophy/Degeneration affecting the brainstem, Brain atrophy, Hypertrophic cardiomyop... OMIM:616277
Worster-Drought Syndrome
Abnormal cranial nerve morphology, Sensorineural hearing impairment ORPHA:3465
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Atrial arrhythmia, Elevated circulating creatine kinase concentration, First degree atrioventricu... OMIM:310300
Atrial Fibrillation, Familial, 4
Paroxysmal atrial fibrillation, Atrial fibrillation, Permanent atrial fibrillation, Premature atr... OMIM:611493
Schwannomatosis 1
Peripheral schwannoma, Vestibular schwannoma OMIM:162091
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602087
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Elevated circulating creatine kinase concentration, Sinus bradycardia, Syncope, Palpitations, Sec... OMIM:616812
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia, Bradycardia OMIM:611938
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Large fo... OMIM:256450
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Bradycardia, Intention tremor, Macrotia, Dystonia, Simplified gyral pattern, Atrioventricular blo... OMIM:614407
Deafness, Autosomal Recessive 2
Sensorineural hearing impairment, Abnormal vestibular function, Vertigo OMIM:600060
Aapoaiv Amyloidosis
Atrial flutter, Left bundle branch block, Abnormal cardiac ventricular function, Left ventricular... ORPHA:439232
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Reduced left ventricular endsystolic diameter, Hypertrophic cardi... OMIM:612124
Atrial Fibrillation, Familial, 6
Atrial fibrillation, Elevated left ventricular end-diastolic diameter, Reduced left ventricular e... OMIM:612201
Cardiomyopathy, Familial Hypertrophic, 7
Atrial fibrillation, Apical hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Hypertro... OMIM:613690
Cardiomyopathy, Dilated, 1U
Congestive heart failure, Left bundle branch block, First degree atrioventricular block, Severely... OMIM:613694
Kearns-Sayre Syndrome
Hearing impairment, Third degree atrioventricular block ORPHA:480
Deafness, Autosomal Recessive 67
Sensorineural hearing impairment, Abnormal vestibular function, Bilateral sensorineural hearing i... OMIM:610265
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Hyperinsulinemic Hypoglycemia, Familial, 6
Asymptomatic hyperammonemia, Hypoglycemic seizures, Failure to thrive, Hyperinsulinemic hypoglyce... OMIM:606762
Congenital Myopathy 5 With Cardiomyopathy
Congestive heart failure, Elevated circulating creatine kinase concentration, Arrhythmia, Severel... OMIM:611705
Attrv30M Amyloidosis
Atrioventricular block, Cardiomyopathy, Abnormal autonomic nervous system physiology, Arrhythmia ORPHA:85447
Jervell And Lange-Nielsen Syndrome 1
Prolonged QT interval, Prolonged QTc interval, Sudden cardiac death, Congenital sensorineural hea... OMIM:220400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602086
Familial Short Qt Syndrome
Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor... ORPHA:51083
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy, Sensorineural hearing impairment OMIM:136600
Combined Oxidative Phosphorylation Deficiency 39
Cerebral atrophy, Hypsarrhythmia, Cerebellar atrophy, Dystonia, Sinus bradycardia, Simplified gyr... OMIM:618397
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, Palpitations, Sudden cardiac d... OMIM:610476
Wolff-Parkinson-White Syndrome
Paroxysmal atrial fibrillation, Wolff-Parkinson-White syndrome, Atrial flutter, Syncope, Ventricu... OMIM:194200
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, ST segment elevation, Hypertension, Prolonged PR interval OMIM:615378
Long Qt Syndrome 16
Prolonged QTc interval, T-wave alternans, Second degree atrioventricular block, Bradycardia OMIM:618782
Cardiomyopathy, Dilated, 2B
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular e... OMIM:614672
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Left anterior fascicular block, Reduced left ventricular ejection fraction, Elevated circulating ... OMIM:181350
Deafness, Autosomal Recessive 31
Sensorineural hearing impairment, Absent vestibular function OMIM:607084
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death OMIM:107970
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Deafness, Autosomal Recessive 89
Sensorineural hearing impairment, Vestibular hypofunction OMIM:613916
Deafness, Autosomal Recessive 84B
Sensorineural hearing impairment, Vestibular hypofunction OMIM:614944
Deafness, Autosomal Recessive 18B
Sensorineural hearing impairment, Vestibular hypofunction OMIM:614945
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Wolff-Parkinson-White syndrome, Histiocytoid cardiomyopathy, Supraventr... ORPHA:45453
Deafness, Autosomal Recessive 15
Sensorineural hearing impairment, Prelingual sensorineural hearing impairment, Abnormal vestibula... OMIM:601869
Cardiomyopathy, Dilated, 1J
Congestive heart failure, Sensorineural hearing impairment, Dilated cardiomyopathy, Abnormal left... OMIM:605362
Auditory Neuropathy, Autosomal Dominant 2
Sensorineural hearing impairment, Abnormal speech discrimination OMIM:620384
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ... OMIM:604559
Deafness, Autosomal Recessive 113
Sensorineural hearing impairment, Abnormal vestibular function OMIM:618410
Deafness, Autosomal Dominant 81
Sensorineural hearing impairment, Abnormal vestibular function OMIM:619500
Deafness, Autosomal Dominant 40
Sensorineural hearing impairment, Abnormal vestibular function OMIM:616357
Deafness, Autosomal Recessive 99
Sensorineural hearing impairment, Abnormal vestibular function OMIM:618481
Deafness, Autosomal Dominant 74
Sensorineural hearing impairment, Abnormal vestibular function OMIM:618140
Deafness, Autosomal Recessive 117
Sensorineural hearing impairment, Abnormal vestibular function OMIM:619174
Deafness, Autosomal Recessive 110
Sensorineural hearing impairment, Abnormal vestibular function OMIM:618094
Deafness, Autosomal Recessive 7
Sensorineural hearing impairment, Abnormal vestibular function OMIM:600974
Deafness, Autosomal Dominant 56
Sensorineural hearing impairment, Abnormal vestibular function OMIM:615629
Deafness, Autosomal Recessive 1A
Sensorineural hearing impairment, Abnormal vestibular function OMIM:220290
Deafness, Autosomal Dominant 66
Sensorineural hearing impairment, Abnormal vestibular function OMIM:616969
Deafness, Autosomal Dominant 71
Sensorineural hearing impairment, Abnormal vestibular function OMIM:617605
Deafness, Autosomal Dominant 53
Sensorineural hearing impairment, Abnormal vestibular function OMIM:609965
Deafness, Autosomal Dominant 25
Sensorineural hearing impairment, Abnormal vestibular function OMIM:605583
Cardiomyopathy, Familial Hypertrophic, 18
Paroxysmal atrial fibrillation, Hypertrophic cardiomyopathy, Atrial fibrillation OMIM:613874
Cardiomyopathy, Familial Hypertrophic, 20
Atrial fibrillation, Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction OMIM:613876
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Reduced left ventricular ... OMIM:613243
Congenital Heart Block
Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhythm, Abnormal heart valv... ORPHA:60041
Nathalie Syndrome
Hearing impairment, Abnormal EKG OMIM:255990
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Diffuse cerebral atrophy, Bradycardia ORPHA:2898
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Paroxysmal ventricular tachycardia, Right bundle branch block, Tricuspid re... OMIM:619897
Cardiomyopathy, Familial Hypertrophic, 26
Congestive heart failure, Left anterior fascicular block, Left bundle branch block, Atrial fibril... OMIM:617047
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Congestive heart failure, Atrial flutter, Heart block, Atrial fibrillation, Supraventricular tach... ORPHA:300751
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hearing impairment, Hyp... ORPHA:99886
Cardiomyopathy, Dilated, 2I
Dilated cardiomyopathy, Supraventricular tachycardia, Severely reduced left ventricular ejection ... OMIM:620462
Atrial Septal Defect, Ostium Primum Type
Congestive heart failure, Atrial flutter, Right-to-left shunt, Third heart sound, Atrial fibrilla... ORPHA:99106
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Desminopathy
Congestive heart failure, Concentric hypertrophic cardiomyopathy, Supraventricular arrhythmia, At... ORPHA:98909
Cardiomyopathy, Dilated, 1Kk
Congestive heart failure, Atrial fibrillation, Hypertrophic cardiomyopathy, Increased left ventri... OMIM:615248
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617182
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Bradycardia, Hypertrophic cardiomyopathy, Simplified gyral pattern, Dilated cardiomyopathy, EEG a... OMIM:618815
Deafness, Mid-Tone Neural
Sensorineural hearing impairment, Progressive hearing impairment OMIM:124700
Deafness, Autosomal Dominant 49
Sensorineural hearing impairment, Progressive hearing impairment OMIM:608372
Deafness, X-Linked 4
Sensorineural hearing impairment, High-frequency hearing impairment OMIM:300066
Deafness, Autosomal Recessive 29
Hearing impairment, Sensorineural hearing impairment OMIM:614035
Deafness, Autosomal Recessive 20
Hearing impairment, Sensorineural hearing impairment OMIM:604060
Deafness, Autosomal Recessive 13
Hearing impairment, Sensorineural hearing impairment OMIM:603098
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Left bundle branch block, Palpitations, Vertigo, Su... OMIM:608758
Atrioventricular Dissociation
Congenital atrioventricular dissociation OMIM:209600
Congenital Myopathy 24
Facial palsy, First degree atrioventricular block, Abnormal circulating creatine kinase concentra... OMIM:617336
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ... OMIM:610021
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Vertigo, Cardiac arrest, Premature ventricular contraction, Ventricular fibrillation, Syncope, Ve... OMIM:614916
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia, Sensorineural hearing impairment, Hypoproteinemia OMIM:221400
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Supraventricular arrhythmia, Cardiomyopathy ORPHA:320360
Jervell And Lange-Nielsen Syndrome
Prolonged QTc interval, Bilateral sensorineural hearing impairment, Ventricular fibrillation, Arr... ORPHA:90647
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Polymorphic ventricular tachycardia, Prolonged QT interval, Paroxysmal ventricular tachycardia, P... OMIM:614021
Trimethylaminuria
Tachycardia, Hypertension OMIM:602079
Long Qt Syndrome 14
2:1 atrioventricular block, Prolonged QT interval, Prolonged QTc interval, T-wave alternans, Card... OMIM:616247
Mitochondrial Complex I Deficiency, Nuclear Type 13
Cerebral atrophy, Decreased circulating carnitine concentration, Bradycardia, Cardiac arrest, Hyp... OMIM:618235
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Ventricular arrhythmia, Ventricular tachycardia, Prolonged QRS ... OMIM:611528
Deafness, Autosomal Recessive 79
Sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:613307
Deafness, Autosomal Dominant 22
Sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:606346
Deafness, Sensorineural, Autosomal-Mitochondrial Type
Sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:221745
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Abnormal left ventricular function, Heart block, Cardiomyopathy ORPHA:98912
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v... OMIM:604400
Cardiomyopathy, Familial Hypertrophic, 2
Reduced left ventricular ejection fraction, Angina pectoris, Atrial fibrillation, Right bundle br... OMIM:115195
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Arrhythmia OMIM:212500
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Bradycardia, Hypertension, T-wave inversion, Low-output congestive heart f... ORPHA:66529
Short Qt Syndrome 2
Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde... OMIM:609621
Myotonic Dystrophy 1
Cerebral atrophy, Atrial flutter, Atrial fibrillation, Facial diplegia, First degree atrioventric... OMIM:160900
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Premature ventricular contraction, Sudden cardiac death, Congenital sensor... OMIM:612347
Cardiomyopathy, Familial Hypertrophic, 21
Atrial fibrillation, Hypertrophic cardiomyopathy OMIM:614676
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Mildly elevated creatine kinase, Bradycardia OMIM:620265
Atrial Fibrillation, Familial, 10
Paroxysmal atrial fibrillation, Atrial flutter, Bradycardia, Permanent atrial fibrillation, Tricu... OMIM:614022
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Prolonged PR interval OMIM:108900
Brugada Syndrome 3
J wave, Atrial fibrillation, Shortened QT interval, Ventricular arrhythmia, Syncope, Sudden cardi... OMIM:611875
Brugada Syndrome 7
Paroxysmal atrial fibrillation, Atrial flutter, ST segment elevation, Permanent atrial fibrillati... OMIM:613120
Lipoyltransferase 1 Deficiency
Bradycardia, Cerebellar atrophy, Pulmonary arterial hypertension, Increased total bilirubin, Dyst... OMIM:616299
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Left ventricular outflow tract obstruction, Right bundle branch block, ... OMIM:613251
Wild Type Attr Amyloidosis
Congestive heart failure, Bradycardia, Atrial fibrillation, Abnormal autonomic nervous system phy... ORPHA:330001
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Bradycardia, Brain atrophy, Hyperalaninemia, Decreased plasma free carn... OMIM:619048
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal QRS complex, Reduced left ventricular ejection fra... ORPHA:45452
Variegate Porphyria
Tachycardia OMIM:176200
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus, Beta-cell dysfunction OMIM:612227
Abnormal Hair, Joint Laxity, And Developmental Delay
Sinus bradycardia, Mitral regurgitation, Recurrent otitis media, Tricuspid regurgitation OMIM:261990
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Decreased compound muscle action potential amplitude, Vestibular schwannoma OMIM:613641
Combined Oxidative Phosphorylation Deficiency 54
Absence of acoustic reflex, Sensorineural hearing impairment, Tremor, Tachycardia, Periventricula... OMIM:619737
Collagenoma, Familial Cutaneous
Congestive heart failure, Right ventricular cardiomyopathy, Atrial fibrillation, Vasculitis, Sens... OMIM:115250
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Reduced left ventricular ejection fraction, Premature ventricular contr... OMIM:620247
Coenzyme Q10 Deficiency, Primary, 5
Cerebral atrophy, Bradycardia, Cerebellar atrophy, Hyperalaninemia, Dystonia OMIM:614654
Acute Peripheral Arterial Occlusion
Absent ankle pulse, Supraventricular tachycardia, Abnormal capillary physiology, Abnormality of v... ORPHA:90064
Non-Functioning Paraganglioma
Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Tremo... ORPHA:94080
Timothy Syndrome
Prolonged QT interval, Bradycardia, Hypocalcemia, Pulmonary arterial hypertension, Atrioventricul... OMIM:601005
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia OMIM:126320
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:255100
Attrv122I Amyloidosis
Abnormal atrioventricular conduction, Congestive heart failure, Increased circulating NT-proBNP c... ORPHA:85451
Leber Hereditary Optic Neuropathy
Optic atrophy, Retinal telangiectasia, Arrhythmia, Ventricular preexcitation, Postural tremor ORPHA:104
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Opisthotonus, Bradycardia OMIM:619814
Mody
Large for gestational age, Neonatal hypoglycemia, Hepatocellular adenoma, Abnormal circulating C-... ORPHA:552
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Angina pectoris, Atrial fibrillation, Hypertrophic cardiomyopathy, Ventricular tach... OMIM:613873
Carnitine-Acylcarnitine Translocase Deficiency
Bradycardia, Cardiac arrest, Cardiomyopathy, Hypotension, Premature ventricular contraction, Elev... OMIM:212138
Ataxia, Deafness, And Cardiomyopathy
Sensorineural hearing impairment, Cardiomyopathy OMIM:208750
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
Atrial Fibrillation, Familial, 13
Paroxysmal atrial fibrillation, Aortic valve stenosis OMIM:615377
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Sudden cardiac death, Paroxysmal ventricular tachycardia OMIM:192605
Atrial Fibrillation, Familial, 12
Paroxysmal atrial fibrillation OMIM:614050
Long Qt Syndrome 1
Hearing abnormality, Prolonged QT interval, Prolonged QTc interval, Ventricular fibrillation, Sud... OMIM:192500
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Reduced systolic function OMIM:609909
Atrial Fibrillation, Familial, 1
Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 5
Atrial fibrillation OMIM:611494
Atrial Fibrillation, Familial, 2
Atrial fibrillation OMIM:608988
Atrial Fibrillation, Familial, 8
Atrial fibrillation OMIM:613055
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Bradycardia OMIM:616276
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
First degree atrioventricular block, Ventricular tachycardia, Left bundle branch block OMIM:615616
Optic Atrophy 8
Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,... OMIM:616648
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Shortened QT interval, Syncope, Palpitations, Sud... OMIM:609620
Congenital Heart Defects, Multiple Types, 2
Congestive heart failure, Aortic regurgitation, Atrial fibrillation, Left ventricular outflow tra... OMIM:614980
Cardiomyopathy, Dilated, 2F
Congestive heart failure, Increased left ventricular end-diastolic volume, Increased circulating ... OMIM:619747
Hjv Or Hamp-Related Hemochromatosis
Abnormality of endocrine pancreas physiology, Abnormality of iron homeostasis, Diabetes mellitus,... ORPHA:79230
Danon Disease
Congestive heart failure, Wolff-Parkinson-White syndrome, Atrial arrhythmia, Elevated circulating... OMIM:300257
Ventricular Fibrillation, Paroxysmal Familial, 1
Syncope, Ventricular fibrillation, Tachycardia OMIM:603829
Cardiomyopathy, Dilated, 1Ii
Elevated circulating creatine kinase concentration, Ventricular tachycardia, Increased left ventr... OMIM:615184
Acitretin/Etretinate Embryopathy
Bradycardia, Microtia, Bilateral sensorineural hearing impairment, Third degree atrioventricular ... ORPHA:40366
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Presyncope, Left bundle branch block, Palpitations, Premature ventricular contraction, Ventricula... OMIM:618920
Wolfram-Like Syndrome, Autosomal Dominant
Optic atrophy, Sensorineural hearing impairment, Progressive hearing impairment, Hearing impairme... OMIM:614296
Cardiomyopathy, Familial Hypertrophic, 11
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc... OMIM:612098
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, ST segment elevation, Vertigo, Right bundle branch block, Cardiomyopathy, Ventricul... ORPHA:263297
Sudden Cardiac Failure, Infantile
Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Sudden cardiac d... OMIM:617222
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Congestive heart failure, Left bundle branch block, Ventricular arrhythmia, Increased left ventri... OMIM:601493
Combined Oxidative Phosphorylation Deficiency 10
Optic atrophy, Bradycardia, Hyperalaninemia, Hypertrophic cardiomyopathy, Hyperammonemia, Dystonia OMIM:614702
Sinus Node Disease And Myopia
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin OMIM:182190
Dystonia 23
Writer's cramp, Torticollis, Axial dystonia, Cerebellar atrophy, Limb dystonia, Head tremor, Cere... OMIM:614860
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cerebral atrophy, Bradycardia, Progressive hearing impairment, Cardiomyopathy, Arrhythmia OMIM:609286
Atrophoderma Vermiculata
Heart block ORPHA:79100
Congenital Heart Defects, Multiple Types, 5
Atrial fibrillation, Dilated cardiomyopathy, Aortic valve stenosis OMIM:617912
D-Glyceric Aciduria
Elevated circulating D-glyceric concentration, Nonketotic hyperglycinemia, Bradycardia, Hypsarrhy... OMIM:220120
Long Qt Syndrome 3
Torsade de pointes, Prolonged QTc interval, Ventricular flutter, Ventricular fibrillation, Syncop... OMIM:603830
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... OMIM:600884
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Aganglionic megacolon, Hypertension, Abnormal autonomic nervous system physiology, Posteriorly ro... OMIM:613870
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Fasting hypoglycemia, Hypoketotic hypoglycemia, Tremor, Increased body weight, ... ORPHA:276608
Cardiomyopathy, Familial Hypertrophic, 4
Congestive heart failure, Left bundle branch block, Reduced left ventricular ejection fraction, R... OMIM:115197
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... ORPHA:453533
Coproporphyria, Hereditary
Tachycardia, Hypertension OMIM:121300
Hydroxykynureninuria
Tachycardia, Congenital sensorineural hearing impairment, Abnormal circulating tryptophan concent... ORPHA:79155
Tetanus
Bradycardia, Hypertension, Tremor, Abnormal autonomic nervous system physiology, Elevated circula... ORPHA:3299
Muscle Filaminopathy
Abnormality of peripheral nervous system electrophysiology, Right bundle branch block, Cardiomyop... ORPHA:171445
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Polymorphic ventricular tachycardia, Prolonged QT interval, Cardiac arrest, Premature ventricular... OMIM:615441
Ebstein Anomaly
Atrial fibrillation, Right bundle branch block, Ventricular preexcitation, Sudden cardiac death, ... OMIM:224700
Atrial Septal Defect, Ostium Secundum Type
Congestive heart failure, Atrial flutter, Abnormal left ventricular function, Increased pulmonary... ORPHA:99103
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Shortened PR interval, Permanent a... OMIM:108950
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Large for gestational age, Hypoketotic hypoglycemia... ORPHA:293964
Mahvash Disease
Pancreatic alpha-cell hyperplasia, Vertigo, Increased glucagon level, Type II diabetes mellitus, ... OMIM:619290
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Heart block, Premature ventricular contraction ORPHA:1964
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Optic atrophy, Bradycardia, Neuronal loss in central nervous system, Abnormal autonomic nervous s... OMIM:614498
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Neonatal hypoglycemia, Fasting hypoglycemia, Hypoinsulinemia, Obesity,... OMIM:240900
Insulinoma
Hyperinsulinemia, Neuroendocrine neoplasm, Hearing abnormality, Neoplasm of the adrenal gland, Tr... ORPHA:97279
Glutamine Deficiency, Congenital
Bradycardia, Brain atrophy, Low-set ears, Hyperammonemia, Hypoglutaminemia OMIM:610015
Familial Thyroid Dyshormonogenesis
Sensorineural hearing impairment, Abnormal circulating thyroglobulin concentration, Neonatal hype... ORPHA:95716
Kearns-Sayre Syndrome
Sensorineural hearing impairment, Arrhythmia, Cardiomyopathy, Third degree atrioventricular block OMIM:530000
Cardiomyopathy, Dilated, 1Bb
Congestive heart failure, Left bundle branch block, Severely reduced left ventricular ejection fr... OMIM:612877
Atrial Standstill 2
Bradycardia, Cardiomyopathy, Atrial arrhythmia, Hyperpepsinogenemia I, Absent P wave, Palpitation... OMIM:615745
Hyperinsulinism Due To Ucp2 Deficiency
Tachycardia, Hypertrophic cardiomyopathy, Increased C-peptide level, Decreased circulating free f... ORPHA:276556
Pheochromocytoma/Paraganglioma Syndrome 3
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma, Pulsatile tinnitus OMIM:605373
Deafness, Autosomal Dominant 75
Sensorineural hearing impairment, Abnormal cochlea morphology OMIM:618778
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemia, Hepatomegaly, Diffuse pancrea... ORPHA:276575
Muscular Dystrophy, Becker Type
Elevated circulating creatine kinase concentration, Cardiomyopathy, Abnormal EKG, Arrhythmia OMIM:300376
Muscular Dystrophy, Congenital, Lmna-Related
Paroxysmal atrial fibrillation, Ventricular tachycardia, Paroxysmal atrial tachycardia, Elevated ... OMIM:613205
Long Qt Syndrome 2
Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Notched T wave, Ventricular fibril... OMIM:613688
Congenital Glucokinase-Related Hyperinsulinism
Hypoketotic hypoglycemia, Abnormal circulating C-peptide concentration, Abnormality of the autono... ORPHA:79299
Familial Isolated Restrictive Cardiomyopathy
Atrial fibrillation, Supraventricular arrhythmia, Tricuspid regurgitation, Hypertrophic cardiomyo... ORPHA:75249
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemia, Maternal diabetes, Diffuse pa... ORPHA:276580
Familial Isolated Dilated Cardiomyopathy
Congestive heart failure, Left ventricular systolic dysfunction, Sensorineural hearing impairment... ORPHA:154
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Tachycardia, Syncope, Premature ventricular contraction OMIM:192445
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601382
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Congestive heart failure, Sensorineural hearing impairment, Cardiac arrest, Paroxy... ORPHA:49827
Acquired Methemoglobinemia
Tachycardia, Vertigo, Arrhythmia, Syncope, Palpitations ORPHA:464453
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia, Bradycardia ORPHA:95717
Neonatal Lupus Erythematosus
Heart block, Prolonged QT interval, Arrhythmia, Atrioventricular block, Dilated cardiomyopathy, A... ORPHA:398124
Heart-Hand Syndrome, Spanish Type
Sick sinus syndrome OMIM:140450
Brugada Syndrome 4
Syncope, Shortened QT interval, Atrial fibrillation OMIM:611876
Gitelman Syndrome
Hypermagnesemia, Prolonged QT interval, Hypokalemia, Prominent U wave, Hypocalcemia, Vertigo, Low... ORPHA:358
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Hypocalcemia, Hypoproteinemia, Increased circulating free fatty acid level... ORPHA:26793
Cardiomyopathy, Dilated, 1Y
Congestive heart failure, Increased left ventricular end-diastolic volume, Atrial fibrillation, L... OMIM:611878
Aortic Aneurysm, Familial Thoracic 9
Atrial fibrillation OMIM:616166
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Supraventricular arrhythmia, Increased LDL cholesterol concentration, Eleva... ORPHA:98855
Glycogen Storage Disease Xv
Paroxysmal ventricular tachycardia, ST segment elevation, Right bundle branch block, Ventricular ... OMIM:613507
Naxos Disease
Congestive heart failure, Paroxysmal ventricular tachycardia, Vertigo, Cardiomyopathy, Arrhythmia... ORPHA:34217
Ebstein Malformation Of The Tricuspid Valve
Congestive heart failure, Atrial fibrillation, Right bundle branch block, Cerebral ischemia, Arrh... ORPHA:1880
Pheochromocytoma/Paraganglioma Syndrome 1
Hypertension associated with pheochromocytoma, Conductive hearing impairment, Pulsatile tinnitus,... OMIM:168000
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve... OMIM:607450
Cardiomyopathy, Dilated, 1R
Congestive heart failure, Restrictive cardiomyopathy, Ventricular arrhythmia, Increased left vent... OMIM:613424
Methanol Poisoning
Hypertension, Hyperlipidemia, Permanent atrial fibrillation, Inflammatory arteriopathy, Cerebral ... ORPHA:31825
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypokalemia, Hypertension, Athetosis, Pulmonary arterial hypertension, Tinnitus, Epistaxis, Intra... ORPHA:369929
Long Qt Syndrome 6
Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Ventricular fibrillation, Sudden c... OMIM:613693
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Congestive heart failure, Fourth heart sound, Right axis deviation, Elevated jugular venous press... OMIM:255160
Illum Syndrome
Calcinosis, Bradycardia OMIM:208155
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Optic atrophy, Cerebral atrophy, Prolonged QTc interval, Sensorineural hearing impairment, Cardia... OMIM:616878
Histiocytoid Cardiomyopathy
Optic atrophy, Congestive heart failure, Wolff-Parkinson-White syndrome, Atrial flutter, Atrial f... ORPHA:137675
Hereditary Coproporphyria
Tachycardia, Hyponatremia, Long hairs growing from helix of pinna, Abnormal circulating porphyrin... ORPHA:79273
Glossopharyngeal Neuralgia
Abnormal glossopharyngeal nerve morphology, Ear pain, Bradycardia, Cranial nerve compression, Jaw... ORPHA:221098
Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Supraventricular arrhythmia, Increased LDL cholesterol concentration, Eleva... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Supraventricular arrhythmia, Increased LDL cholesterol concentration, Eleva... ORPHA:98853
Non-Syndromic Genetic Deafness
Abnormal vestibulo-ocular reflex, Postlingual sensorineural hearing impairment, Prelingual sensor... ORPHA:87884
Lyme Disease
Atrioventricular block, Arrhythmia ORPHA:91546
Hyperinsulinism Due To Hnf1A Deficiency
Tachycardia, Increased C-peptide level, Decreased circulating free fatty acid level, Syncope, Pal... ORPHA:324575
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Congestive heart failure, Third heart sound, Elevated jugular... ORPHA:1329
X-Linked Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Supraventricular arrhythmia, Increased LDL cholesterol concentration, Eleva... ORPHA:98863
Peripartum Cardiomyopathy
Myocarditis, Congestive heart failure, Left ventricular systolic dysfunction, Left bundle branch ... ORPHA:563
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hypotension, Elevated circulating creatine kinase concentration, Tachycardia, Hyper... OMIM:145600
Cardiomyopathy, Familial Hypertrophic, 8
Congestive heart failure, Reduced left ventricular ejection fraction, Palpitations, Restrictive c... OMIM:608751
Hyperleucine-Isoleucinemia
Sensorineural hearing impairment, Failure to thrive OMIM:238340
Combined Oxidative Phosphorylation Defect Type 39
Cerebral atrophy, Decreased nerve conduction velocity, Leg dystonia, Bradycardia, Hypsarrhythmia,... ORPHA:565624
Tropical Endomyocardial Fibrosis
P pulmonale, Abnormal ST segment, Prolonged QRS complex, Pulmonary venous hypertension, Elevated ... ORPHA:75565
Brugada Syndrome 8
Ventricular tachycardia, Right bundle branch block, ST segment elevation OMIM:613123
Deafness, Autosomal Dominant 86
Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti... OMIM:620280
Deafness, Autosomal Dominant 44
Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti... OMIM:607453
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Neonatal hypoglycemia, Diffuse pancreatic islet hyperplasia, Abnormal ... ORPHA:79644
Sporadic Pheochromocytoma/Secreting Paraganglioma
Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Tremo... ORPHA:276621
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Cerebellar atrophy, Interictal EEG abnormality, Tachycardia, Optic disc pallor ORPHA:79264
Arnold-Chiari Malformation Type I
Abnormality of the vestibulocochlear nerve, Abnormality of the twelfth cranial nerve, Abnormality... ORPHA:268882
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Abnormal semicircular canal morphology, Absent vesti... OMIM:618013
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Congestive heart failure, Wolff-Parkinson-White syndrome, Hypertension, Bilateral sensorineural h... OMIM:540000
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Palpitations, Hypokalemia OMIM:188580
Sick Sinus Syndrome 3, Susceptibility To
Sick sinus syndrome OMIM:614090
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia,... OMIM:147630
Mitochondrial Complex I Deficiency, Nuclear Type 37
Cerebral atrophy, Bradycardia, Cerebellar atrophy, Pulmonary arterial hypertension, Corpus callos... OMIM:619272
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Cardiac arrest, Premature ventricul... OMIM:609040
Orthostatic Hypotension 1
Orthostatic hypotension, Atrial fibrillation, Increased blood urea nitrogen, Hypomagnesemia, Elev... OMIM:223360
Familial Idiopathic Dilatation Of The Right Atrium
Paroxysmal atrial fibrillation, Reduced left ventricular ejection fraction, Abnormal cardiac vent... ORPHA:1677
Mcleod Syndrome
Reduced haptoglobin level, Atrial fibrillation, Cardiomyopathy, Elevated circulating creatine kin... OMIM:300842
Wolfram-Like Syndrome
Delayed puberty, Central diabetes insipidus, Optic atrophy, Male hypogonadism, Abnormal pinna mor... ORPHA:411590
Infant Acute Respiratory Distress Syndrome
Tachycardia, Cardiac arrest, Hypotension, Bradycardia ORPHA:70587
Deafness, Dystonia, And Cerebral Hypomyelination
Optic atrophy, Cerebral atrophy, Sensorineural hearing impairment, Cerebellar atrophy, Failure to... OMIM:300475
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tachycardia, Tremor, Hypokalemia OMIM:613239
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Left ventricular systolic dysfunction, Frontal cortical atrophy, Right bundle branch block, Eleva... ORPHA:206559
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Abnormal atrioventricular conduction, Hearing impairment, Cardiomyopathy ORPHA:329336
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Mildly reduced left ventricular ejection fraction, Sensorineural hearing impairment, Cerebellar a... OMIM:618098
Coronary Arterial Fistula
Congestive heart failure, Tachycardia, Angina pectoris, Elevated jugular venous pressure, Pulmona... ORPHA:2041
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Cerebral atrophy, Generalized dystonia, Hypsarrhythmia, Bilateral sensorineural hearing impairmen... OMIM:618321
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, First degree atrioventricular block, Atrioventricular block ORPHA:392
High Altitude Pulmonary Edema
Tachycardia, Vertigo ORPHA:330012
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Congestive heart failure, Aortic regurgitation, Left ventricular ... ORPHA:3092
Rigid Spine Syndrome
Cardiac conduction abnormality ORPHA:97244
Adult-Onset Cervical Dystonia, Dyt23 Type
Torticollis, Writer's cramp, Axial dystonia, Supraventricular arrhythmia, Craniofacial dystonia, ... ORPHA:420492
Pulmonary Hypertension, Primary, 4
Elevated pulmonary artery pressure, Atrial flutter, Pulmonary arterial hypertension with lack of ... OMIM:615344
Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricemia, Sensorineural hearing impairment, Hypertension, Cardiomyopathy, Arrhythmia ORPHA:3222
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Prolonged QT interval, Bradycardia, Atrial fibrillation, Elevated circulati... OMIM:613327
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of visual evok... ORPHA:320401
Snakebite Envenomation
Hypotension, Cerebral ischemia, Hyponatremia, Cardiogenic shock, Epistaxis, Intracranial hemorrha... ORPHA:449285
Pediatric-Onset Graves Disease
Congestive heart failure, Atrial fibrillation, Sinus tachycardia, Hypertension, Tremor, Palpitations ORPHA:525731
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Congestive heart failure, Increased total bilirubin ORPHA:90037
Pheochromocytoma--Islet Cell Tumor Syndrome
Congestive heart failure, Episodic hypertension, Hypercalcemia, Cerebral hemorrhage, Positive reg... OMIM:171420
Long Qt Syndrome 12
Prolonged QTc interval, Ventricular fibrillation, Syncope, Torsade de pointes OMIM:612955
Car T Cell Therapy-Associated Cytokine Release Syndrome
Heart block, Reduced left ventricular ejection fraction, Capillary leak, Hyperbilirubinemia, Hypo... ORPHA:542323
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... ORPHA:171706
Hereditary Pulmonary Alveolar Proteinosis
Tachycardia, Elevated circulating carcinoembryonic antigen concentration, Abnormal circulating pr... ORPHA:264675
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Cardiomyopathy, Abse... ORPHA:1215
Autosomal Dominant Progressive External Ophthalmoplegia
Reduced left ventricular ejection fraction, Atrial fibrillation, Resting tremor, Tremor, Facial d... ORPHA:254892
Ethylene Glycol Poisoning
Hyperkalemia, Congestive heart failure, Prolonged QT interval, Atrial fibrillation, Hypocalcemia,... ORPHA:31826
Refsum Disease
Sensorineural hearing impairment, Heart block, Cardiomyopathy ORPHA:773
Short Qt Syndrome 3
Tachycardia, Palpitations, Shortened QT interval OMIM:609622
Fabry Disease
Optic atrophy, Congestive heart failure, Abnormal circulating lipid concentration, Angina pectori... ORPHA:324
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Right bundle branch block, Elevated circulating creatine kinase concentration OMIM:613158
Tularemia
Tachycardia, Otitis media ORPHA:3392
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response, Bradycardia OMIM:608800
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Optic atrophy, Wolff-Parkinson-White syndrome, Sensorineural hearing impairment, Undetectable vis... OMIM:601338
Cataract-Ataxia-Deafness Syndrome
Sensorineural hearing impairment, Tremor, Decreased nerve conduction velocity, Adult onset sensor... ORPHA:1368
Glycogen Storage Disease Iv
Abnormal circulating creatine kinase concentration, Cardiomyopathy, Portal hypertension, Bradycardia OMIM:232500
Cardiomyopathy, Dilated, 1Nn
Congestive heart failure, Reduced left ventricular ejection fraction, Abnormal ST segment, Ventri... OMIM:615916
Glycogen Storage Disease Of Heart, Lethal Congenital
Congestive heart failure, Bradycardia, EEG with burst suppression, ST segment elevation, Cardiomy... OMIM:261740
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypertension, Pulmonary arterial hypertension, Hypoalbuminemia, EEG abnormality, Second degree at... OMIM:617021
Mercury Poisoning
Hypokalemia, Tremor, Hypertension, Hypotension, Dystonia, Tachycardia ORPHA:330021
Combined Oxidative Phosphorylation Deficiency 38
Wolff-Parkinson-White syndrome, Low-set ears, Hyperalaninemia, Hypertrophic cardiomyopathy, Poste... OMIM:618378
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Ventricular tachycardia, Dilated cardiomyopathy, Elevated circulating creatine kinase concentrati... OMIM:600649
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Torsade de pointes, Left ventricular noncompaction cardiomyopathy, Ventricular fibrillation, Poly... OMIM:115000
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Bradycardia, Elevated circulating creatine kinase concentration, Hy... OMIM:618775
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Increased circulating NT-proBNP concentration, Right axis deviati... OMIM:232300
Scapuloperoneal Myopathy, X-Linked Dominant
Right bundle branch block, Elevated circulating creatine kinase concentration OMIM:300695
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Neonatal hypoglycemia, Hyperinsulinemia, Hepatomegaly, Hypophosphatemi... ORPHA:263455
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Insulin resistance, Polycystic ovaries, Diabetes me... ORPHA:79084
X-Linked Spinocerebellar Ataxia Type 3
Optic atrophy, Sensorineural hearing impairment ORPHA:85297
Myotonic Dystrophy 2
Right bundle branch block, Elevated circulating creatine kinase concentration, Premature ventricu... OMIM:602668
Hereditary Pheochromocytoma-Paraganglioma
Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Tremo... ORPHA:29072
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hypoglycemia, Hyperinsulinemia, Congenital sensorineural hearing impairment OMIM:606528
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin OMIM:609438
Infantile Cerebellar-Retinal Degeneration
Optic atrophy, Sensorineural hearing impairment, Athetosis, Cerebellar atrophy, Decreased body we... OMIM:614559
Stiff-Person Syndrome
Tachycardia, Hypertension, Opisthotonus, Exaggerated startle response OMIM:184850
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Tachycardia, Elevated circulating creatine kinase concentration, Highly elevated creatine kinase,... ORPHA:368
Combined Oxidative Phosphorylation Deficiency 17
Congestive heart failure, Sensorineural hearing impairment, Hypertrophic cardiomyopathy OMIM:615440
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Decreased nerve conduction velocity, Arrhythmia ORPHA:99944
Brugada Syndrome 5
ST segment elevation, Ventricular fibrillation, Bundle branch block OMIM:612838
Oculopharyngodistal Myopathy 1
Paroxysmal atrial fibrillation, Sensorineural hearing impairment, Brain atrophy, Tremor, Facial p... OMIM:164310
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Increased total bilirubin ORPHA:90036
Deafness, Autosomal Dominant 77
Abnormal inner ear morphology, Sensorineural hearing impairment, Tinnitus OMIM:618915
Congenital Disorder Of Glycosylation, Type Im
Hypsarrhythmia, Dilated cardiomyopathy, Increased circulating free fatty acid level, Bradycardia OMIM:610768
Obesity Due To Prohormone Convertase I Deficiency
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... ORPHA:71526
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Infantile Refsum Disease
Optic atrophy, Sensorineural hearing impairment, Cardiomyopathy, Facial palsy, Hearing impairment... ORPHA:772
Arterial Calcification, Generalized, Of Infancy, 2
Congestive heart failure, Hypophosphatemic rickets, Reduced left ventricular ejection fraction, S... OMIM:614473
Pseudo-Torch Syndrome 2
Polymicrogyria, Gray matter heterotopia, Cerebral hemorrhage, Bradycardia OMIM:617397
Neuroleptic Malignant Syndrome
Hyperkalemia, Oculogyric crisis, Bradycardia, Hypocalcemia, Hyperuricemia, Hypertension, Tremor, ... ORPHA:94093
Congenitally Corrected Transposition Of The Great Arteries
Bradycardia, Pulmonic stenosis, Arrhythmia, Heart murmur, Mobitz I atrioventricular block, Aortic... ORPHA:216694
Left Ventricular Noncompaction 8
Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat... OMIM:615373
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Abnormal circulating creatine kinase concentration, Sensorineural hearing impairment, Facial pals... OMIM:617519
Cardiomyopathy, Familial Hypertrophic, 25
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy OMIM:607487
Eisenmenger Syndrome
Vertigo, Left-to-right shunt, Heart murmur, Right-to-left shunt, Elevated jugular venous pressure... ORPHA:97214
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Optic nerve hypoplasia, Aplasia/Hypoplasia of the pancreas, Low-set ears, Neonatal insulin-depend... ORPHA:65288
Mohr-Tranebjaerg Syndrome
Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp... ORPHA:52368
16P12.1P12.3 Triplication Syndrome
Tachycardia, Large earlobe, Low-set ears ORPHA:485405
Andersen-Tawil Syndrome
Torsade de pointes, Polymorphic ventricular tachycardia, Prolonged QT interval, Prominent U wave,... ORPHA:37553
Ravine Syndrome
Atrophy/Degeneration affecting the brainstem, Decreased body weight, Failure to thrive, Abnormal ... ORPHA:99852
Pheochromocytoma/Paraganglioma Syndrome 4
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma, Pulsatile tinnitus OMIM:115310
Muscular Dystrophy, Cardiac Type
Elevated circulating creatine kinase concentration, Cardiomyopathy, Abnormal EKG OMIM:309930
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Supraventricular arrhythmia, Elevated circulating creatine kinase concentration, Retinal hemorrha... OMIM:611773
Relapsing Fever
Elevated circulating C-reactive protein concentration, Hypotension, Increased total bilirubin, Ep... ORPHA:91547
Galactokinase Deficiency
Hyperinsulinemia, Hepatomegaly, Sensorineural hearing impairment, Increased level of galactitol i... ORPHA:79237
Thyrotoxic Periodic Paralysis
Hyperkalemia, Prolonged QT interval, Transient hypophosphatemia, Tremor, Episodic hypokalemia, Ve... ORPHA:79102
Naxos Disease
Congestive heart failure, Right ventricular cardiomyopathy, Paroxysmal ventricular tachycardia, P... OMIM:601214
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Congestive heart failure, Atrial flutter, Tricuspid regurgitation, Aortic valve stenosis, Macroti... ORPHA:324410
Superficial Siderosis
Abnormality of the vestibulocochlear nerve, Dysgyria, Vertigo, Atrophy/Degeneration affecting the... ORPHA:247245
Double Outlet Right Ventricle
Abnormality of cartilage of external ear, Hypocalcemia, Pulmonic stenosis, Heart murmur, Tachycardia ORPHA:3426
Perlman Syndrome
Hyperinsulinemia, Hepatomegaly, Abnormal pancreas morphology, Low-set ears, Posteriorly rotated e... ORPHA:2849
Brugada Syndrome 6
ST segment elevation, Cardiac arrest, Ventricular fibrillation OMIM:613119
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia ORPHA:226313
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypokalemia, Decreased circulating renin level, Athetosis, Hypertension, Pulmonary arterial hyper... OMIM:615474
Bdv Syndrome
Delayed puberty, Hyperinsulinemia, Decreased thyroid-stimulating hormone level, Reduced TSH respo... OMIM:619326
Steinert Myotonic Dystrophy
Left ventricular systolic dysfunction, Atrial fibrillation, Supraventricular tachycardia, Facial ... ORPHA:273
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia, Ventricular arrhythmia OMIM:141000
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Elevated circulat... OMIM:609968
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Atrioventricular block, Pachygyria, Arrhythmia ORPHA:93317
Donohue Syndrome
Hyperinsulinemia, Severe failure to thrive, Fasting hypoglycemia, Low-set ears, Cholestasis, Prec... OMIM:246200
Loeffler Endocarditis
Congestive heart failure, Aortic regurgitation, Palpitations, Restrictive cardiomyopathy, Right b... ORPHA:75566
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal QRS complex, Congestive heart failure, Abnormality of blood circulation, Left ventricula... ORPHA:860
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Sensorineural hearing impairment, Cerebellar atrophy, Hypergonadotropic hypogon... ORPHA:3085
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Methylmalonic acidemia, Bradycardia, Hyperhomocystinemia, Tremor, Cardiac arrest, Hypotension, Pu... OMIM:277400
Middle Ear Neuroendocrine Tumor
Unilateral conductive hearing impairment, Sensorineural hearing impairment, Facial palsy, Abnorma... ORPHA:100084
Congenital Fibrinogen Deficiency
Tachycardia, Opisthotonus, Internal hemorrhage ORPHA:335
Cap Myopathy
Sinus tachycardia, Facial palsy, Reduced systolic function ORPHA:171881
Congenital-Onset Steinert Myotonic Dystrophy
First degree atrioventricular block, Bundle branch block ORPHA:589821
Short Qt Syndrome 7
Cardiac arrest, Ventricular fibrillation, Shortened QT interval, Syncope, Sudden cardiac death OMIM:620231
Partial Atrioventricular Septal Defect
Atrial flutter, Angina pectoris, Transient ischemic attack, Atrial arrhythmia, Aortic valve steno... ORPHA:1330
Adenine Phosphoribosyltransferase Deficiency
Atrial fibrillation, Hypertension ORPHA:976
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Sinus bradycardia OMIM:619482
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Hyperoxaluria, Primary, Type I
Optic atrophy, Hyperoxaluria, Optic neuropathy, Intermittent claudication, Raynaud phenomenon, At... OMIM:259900
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Abnormal circulating C-peptide concentration, Hypoglycemia, Recurr... ORPHA:263458
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrioventricular block, Papilledema, Hypertension ORPHA:371428
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Congestive heart failure, Global brain atrophy, Aortic regurgitation, Cerebellar atrophy, Tricusp... OMIM:620066
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Heart block, Polymicrogyria, Cardiomyopathy, Hyperlipidemia, Elevated circulating creatine kinase... ORPHA:228308
Serotonin Syndrome
Tremor, Hypertension, Hypotension, Abnormality of the autonomic nervous system, Tachycardia ORPHA:43116
Autoimmune Hypoparathyroidism
Hypocalcemic seizures, Prolonged QT interval, Hypocalcemia, Ventricular arrhythmia, Hypocalcemic ... ORPHA:36913
Charcot-Marie-Tooth Disease, Type 4K
Sensorineural hearing impairment, Hearing impairment, Dystonia, Peripheral demyelination, Axonal ... OMIM:616684
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Syncope, Ventricular tachycardia, Dilated cardiomyopathy OMIM:615821
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Deafness, X-Linked 2
Mixed hearing impairment, Conductive hearing impairment, Congenital sensorineural hearing impairm... OMIM:304400
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Jaundice, Abnormality of endocrine pancreas physiology, Aplasia/Hypoplasia of the pancreas, Hyper... ORPHA:93111
Cirrhotic Cardiomyopathy
Elevated pulmonary artery pressure, Congestive heart failure, Fourth heart sound, Abnormal circul... ORPHA:57777
Porphyria Variegata
Hypertension, Abnormal autonomic nervous system physiology, Hyponatremia, Abnormal circulating po... ORPHA:79473
Interatrial Communication
Congestive heart failure, Atrial flutter, Right axis deviation, Atrial fibrillation, Right bundle... ORPHA:1478
Pheochromocytoma
Congestive heart failure, Episodic hypertension, Hypercalcemia, Cerebral hemorrhage, Positive reg... OMIM:171300
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Bradycardia, Hypertension, Low-set ears, Retinal hemorrhage, Tachycardia OMIM:614653
Autoimmune Hemolytic Anemia, Warm Type
Tachycardia, Congestive heart failure ORPHA:90033
Heart Block, Congenital
Absent atrioventricular node, Cardiomyopathy, Atrial arrhythmia, Atrioventricular block, Mitral r... OMIM:234700
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Left ventricular outflow tract obstruction, Low-output congestive heart failure, Elevated circula... ORPHA:308552
Absence Of The Pulmonary Artery
Congestive heart failure, Atrial flutter, Reduced left ventricular ejection fraction, Atrial fibr... ORPHA:980
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal amplitude of pattern reversal visual evoked potentials, Optic atrophy, Abnormal auditory... OMIM:125250
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Ventricular bigeminy, Left bundle branch block, Facial palsy, Elevated circulating creatine kinas... OMIM:610131
Sheehan Syndrome
Orthostatic hypotension, Bradycardia, Sensorineural hearing impairment, Vertigo, Hyponatremia, Pa... ORPHA:91355
Developmental And Epileptic Encephalopathy 111
Polymicrogyria, Sinus tachycardia, Hypertension, Low-set ears, Premature ventricular contraction OMIM:620504
Ventricular Fibrillation, Paroxysmal Familial, 2
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction OMIM:612956
Deafness, Autosomal Dominant 50
Sensorineural hearing impairment, Progressive hearing impairment, Tinnitus, Progressive sensorine... OMIM:613074
3-Methylglutaconic Aciduria, Type Viii
Cerebral atrophy, Bradycardia, Sensorineural hearing impairment, Tremor, Dystonia OMIM:617248
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Low-set ears, Pulmonic stenosis, Paroxysmal supraventricular tachycardia, Conductive hearing impa... OMIM:617877
Solitary Fibrous Tumor
Hypophosphatemic rickets, Abnormal peritoneum morphology, Hypoinsulinemia, Recurrent hypoglycemia... ORPHA:2126
Rhizomelic Chondrodysplasia Punctata, Type 5
Sinus tachycardia OMIM:616716
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Hypertension, Increased blood urea nitrogen, Tachycardia, Elevated circu... OMIM:223900
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Nonketotic hypoglycemia, Weight loss, Insuli... ORPHA:411593
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Necrotizing Enterocolitis
Hyponatremia, Shock, Hypotension, Bradycardia ORPHA:391673
Congenital Disorder Of Glycosylation, Type It
Recurrent otitis media, Elevated circulating creatine kinase concentration, Pulmonary arterial hy... OMIM:614921
Infantile Krabbe Disease
Optic atrophy, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduc... ORPHA:206436
Encephalitis Lethargica
Tremor, Bradycardia ORPHA:83600
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t... ORPHA:66628
Carnitine-Acylcarnitine Translocase Deficiency
Decreased circulating carnitine concentration, Cardiomyopathy, Hypotension, Elevated circulating ... ORPHA:159
Benign Schwannoma
Abnormality of the twelfth cranial nerve, Hearing abnormality, Peripheral schwannoma, Abnormal cr... ORPHA:252164
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Elevated circulating creatine kinase concentration, Right bundle branch block, Bilateral facial p... ORPHA:254361
Cholera
Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Hypovolemic shock, Hypotension, Hypo... ORPHA:173
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia OMIM:229700
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Sensorineural hearing impairment, Cardiomyopathy, Arrhythmia OMIM:249270
Mucopolysaccharidosis Type 3
Chronic otitis media, Optic atrophy, Mixed hearing impairment, Reduced left ventricular ejection ... ORPHA:581
Congenital Myopathy 22A, Classic
Mildly elevated creatine kinase, Tricuspid regurgitation, Bradycardia OMIM:620351
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t... ORPHA:179494
Refsum Disease, Classic
Congestive heart failure, Sensorineural hearing impairment, Cardiomyopathy, Elevated circulating ... OMIM:266500
Isolated Atp Synthase Deficiency
Optic atrophy, Sensorineural hearing impairment, Hyperalaninemia, Cerebellar atrophy, Hypertrophi... ORPHA:254913
Scorpion Envenomation
Myocarditis, Congestive heart failure, Increased circulating NT-proBNP concentration, Hypokalemia... ORPHA:466677
Hypothyroidism Due To Tsh Receptor Mutations
Increased circulating thyroglobulin concentration, Neonatal hyperbilirubinemia, Bradycardia ORPHA:90673
Brugada Syndrome 9
Presyncope, ST segment elevation, Prolonged QT interval, Palpitations OMIM:616399
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperinsulinemia, Abnormal circulating hormone concentration, Hepatic fibro... ORPHA:280356
Dietary Iron Overload Disease
Abnormal adrenal morphology, Increased circulating ferritin concentration, Hepatomegaly, Abnormal... ORPHA:139507
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Elevated circulating proinsulin concentration, Obesity, Decreased circulating co... OMIM:600955
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Atrophy/Degeneration affecting the brainstem, Right bundle branch block, Cerebellar atrophy, Elev... OMIM:616479
Familial Dysautonomia
Optic atrophy, Orthostatic hypotension, Hypertension, Hyponatremia, Tachycardia ORPHA:1764
Hyperthyroidism, Nonautoimmune
Tachycardia, Increased circulating thyroglobulin concentration OMIM:609152
Bangstad Syndrome
Hyperinsulinemia, Abnormal testis morphology, Hypothyroidism, Primary gonadal insufficiency, Abno... ORPHA:1227
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Supraventricular tachycardia, Premature ventricular contraction, Elevated creatine ... ORPHA:423
Combined Oxidative Phosphorylation Deficiency 15
Optic atrophy, Wolff-Parkinson-White syndrome, Tremor, Hypertension, Shortened PR interval, Optic... OMIM:614947
Gitelman Syndrome
Prolonged QT interval, Hypokalemia, Vertigo, Hypotension, Increased circulating renin level, Vent... OMIM:263800
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Abnormal autonomic nervous system physiology, Obesity, Glucose intolerance, Pos... ORPHA:369873
20P12.3 Microdeletion Syndrome