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Gene: Cacna1d MGI:88293

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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

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
Hearing impairment, Abnormal QRS complex, Syncope, Bradycardia, Increased heart rate variability OMIM:614896
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Epistaxis, Second degree atrioventricular block, Tinnitus, Hypokalemia, Pulmonary arterial hypert... ORPHA:369929
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Second degree atrioventricular block, Decreased circulating renin level, Hypokalemia, Pulmonary a... 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
Hearing impairment, Abnormal QRS complex, Syncope, Bradycardia, Increased heart rate variability OMIM:614896
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Romano-Ward Syndrome
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Hypokalemia, Syncope, Abnormal autonomic ... ORPHA:101016
Progressive Familial Heart Block, Type Ii
Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop... OMIM:140400
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Deafness, Autosomal Dominant 9
Cochlear degeneration, Vertigo, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual... OMIM:601369
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... OMIM:616117
Cardiomyopathy, Familial Hypertrophic, 6
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... OMIM:600858
Long Qt Syndrome 13
Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... OMIM:613485
Long Qt Syndrome 15
Ventricular bigeminy, 2:1 atrioventricular block, Sinus bradycardia, Cardiac arrest, Premature ve... OMIM:616249
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... OMIM:115200
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... OMIM:610193
Long Qt Syndrome 9
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... OMIM:611818
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... OMIM:617280
Sick Sinus Syndrome 4
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... OMIM:619464
Optic Atrophy 16
Paroxysmal tachycardia, Temporal optic disc pallor, Sensorineural hearing impairment OMIM:620629
Familial Atrial Fibrillation
Vertigo, Palpitations, Syncope, Atrial fibrillation, Myocardial infarction ORPHA:334
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation... OMIM:604772
Cardiomyopathy, Dilated, 1E
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri... OMIM:601154
Progressive Familial Heart Block, Type Ia
Left anterior fascicular block, Left posterior fascicular block, Right bundle branch block, Synco... OMIM:113900
Atrial Fibrillation, Familial, 7
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... OMIM:612240
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Reduced l... OMIM:601494
Atrial Standstill 1
Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, Premature atrial contra... OMIM:108770
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Familial Progressive Cardiac Conduction Defect
Congestive heart failure, Bundle branch block, Vertigo, Arrhythmia, Syncope, Heart block ORPHA:871
Long Qt Syndrome 5
Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P... OMIM:613695
Catecholaminergic Polymorphic Ventricular Tachycardia
Vertigo, Palpitations, Supraventricular tachycardia, Syncope, Ventricular tachycardia, Atrial fib... ORPHA:3286
Sick Sinus Syndrome 2
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Sinus bradycardia, Sync... OMIM:163800
Sick Sinus Syndrome 1
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... OMIM:608567
Brugada Syndrome 2
Right bundle branch block, Syncope, First degree atrioventricular block, Ventricular fibrillation... OMIM:611777
Nathalie Syndrome
Arrhythmia, Sensorineural hearing impairment ORPHA:2663
Long Qt Syndrome 8
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... OMIM:618447
Congenital Heart Defects, Multiple Types, 3
Atrioventricular block, Atrioventricular dissociation, Atrial fibrillation, Tachycardia, Right bu... OMIM:614954
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Atrial fibrillation, Sudd... OMIM:607554
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Arrhythmia, Hypsarrhythmia, Bradycardia, Sick sinus syndrome, Prolonge... ORPHA:542306
Cardiomyopathy, Dilated, 1G
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula... OMIM:604145
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Palpitations, Permanent atrial fibrillation, Syncope, Prolonged Q... OMIM:613980
Atrial Fibrillation, Familial, 11
Atrial fibrillation, Reduced left ventricular ejection fraction, Prolonged QRS complex, Prolonged... OMIM:614049
Cardiomyopathy, Familial Hypertrophic, 30, Atrial
Atrial flutter, Reduced left ventricular ejection fraction, Increased circulating brain natriuret... OMIM:620734
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Dilated cardiomyopathy, Abnormal electrophysiology of sinoa... ORPHA:168796
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Syn... OMIM:613697
Deafness-Oligodontia Syndrome
Vertigo, Abnormality of the inner ear, Sensorineural hearing impairment ORPHA:3230
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro... OMIM:601419
Aminoacylase 1 Deficiency
Cerebral cortical atrophy, Cerebellar atrophy, Cerebral atrophy, Sensorineural hearing impairment... OMIM:609924
Atrial Fibrillation, Familial, 15
Supraventricular tachycardia, Atrial fibrillation, Sudden cardiac death, Atrial flutter OMIM:615770
Cardiac Conduction Defect
Arrhythmia, Syncope OMIM:115080
Cardiomyopathy, Familial Hypertrophic, 16
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Syncope, V... OMIM:613838
Brugada Syndrome 1
Atrial flutter, Supraventricular tachycardia with an accessory connection mediated pathway, Synco... OMIM:601144
Long Qt Syndrome 10
Atrioventricular block, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Sudden card... OMIM:611819
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bradycardia, Atrial fibrillation... OMIM:616201
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Atrial Standstill
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Vertigo, Ventricula... ORPHA:1344
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... ORPHA:3282
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Deafness, Autosomal Dominant 85
Cochlear nerve hypoplasia, Sensorineural hearing impairment OMIM:620227
Brugada Syndrome
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... ORPHA:130
Left Ventricular Noncompaction 1
Congestive heart failure, Left ventricular noncompaction cardiomyopathy, Palpitations, Mitral reg... OMIM:604169
Cardiomyopathy, Familial Hypertrophic, 28
Apical hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Concentric hype... OMIM:619402
His Bundle Tachycardia
Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy ORPHA:3283
Atrial Septal Defect, Sinus Venosus Type
Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ... ORPHA:99105
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrioventricular block, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Supraventricular tac... OMIM:612158
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hearing impairment, Hypertrophic cardiomyopathy, Atrophy/Degeneration affecting the brainstem, Br... OMIM:616277
Worster-Drought Syndrome
Abnormal cranial nerve morphology, Sensorineural hearing impairment ORPHA:3465
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Atrioventricular block, Absent P wave, Palpitations, Elevated circulating creatine kinase concent... OMIM:310300
Atrial Fibrillation, Familial, 4
Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitations, Permanent atrial fib... OMIM:611493
Schwannomatosis 1
Vestibular schwannoma, Peripheral schwannoma OMIM:162091
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Second degree atrioventricular block, Palpitations, Elevated circulating creatine kinase concentr... OMIM:616812
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
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
Atrioventricular block, Prominent antihelix, Bradycardia, Dystonia, Intention tremor, Macrotia, S... OMIM:614407
Deafness, Autosomal Recessive 2
Vertigo, Abnormal vestibular function, Sensorineural hearing impairment OMIM:600060
Cardiomyopathy, Familial Hypertrophic, 12
Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Ventricular tachycardia, Reduced lef... OMIM:612124
Aapoaiv Amyloidosis
Atrial flutter, Hypertrophic cardiomyopathy, Elevated circulating creatinine concentration, Supra... ORPHA:439232
Atrial Fibrillation, Familial, 6
Atrial fibrillation, Reduced left ventricular ejection fraction, Elevated left ventricular end-di... OMIM:612201
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:613694
Cardiomyopathy, Familial Hypertrophic, 7
Hypertrophic cardiomyopathy, Atrial fibrillation, Apical hypertrophic cardiomyopathy, Wolff-Parki... OMIM:613690
Kearns-Sayre Syndrome
Third degree atrioventricular block, Hearing impairment ORPHA:480
Deafness, Autosomal Recessive 67
Bilateral sensorineural hearing impairment, Abnormal vestibular function, Sensorineural hearing i... OMIM:610265
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Congenital Myopathy 5 With Cardiomyopathy
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Elevated circulating cr... OMIM:611705
Attrv30M Amyloidosis
Atrioventricular block, Abnormal autonomic nervous system physiology, Cardiomyopathy, Arrhythmia ORPHA:85447
Jervell And Lange-Nielsen Syndrome 1
Torsade de pointes, Congenital sensorineural hearing impairment, Syncope, Prolonged QT interval, ... OMIM:220400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Familial Short Qt Syndrome
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... ORPHA:51083
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy, Sensorineural hearing impairment OMIM:136600
Combined Oxidative Phosphorylation Deficiency 39
Cerebellar atrophy, Cerebral atrophy, Sinus bradycardia, Hypsarrhythmia, Pachygyria, Dystonia, Si... OMIM:618397
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Palpitations, Syncope, Ventricular arrhythmia, Sudden cardiac d... OMIM:610476
Wolff-Parkinson-White Syndrome
Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR... OMIM:194200
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension OMIM:615378
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Asymptomatic hyperammonemia, Failure to thrive, Hyperi... OMIM:606762
Long Qt Syndrome 16
Prolonged QTc interval, Second degree atrioventricular block, T-wave alternans, Bradycardia OMIM:618782
Cardiomyopathy, Dilated, 2B
Atrial fibrillation, Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Congesti... OMIM:614672
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Left anterior fascicular block, Dilated cardiomyopathy, Reduced left ventricular ejection fractio... OMIM:181350
Deafness, Autosomal Recessive 31
Absent vestibular function, Sensorineural hearing impairment OMIM:607084
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Ventricular arrhythmia, Right ventricular cardiomyopathy, Sudden cardiac death OMIM:107970
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi... ORPHA:45453
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
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
Deafness, Autosomal Recessive 15
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Sensorineural hearing ... OMIM:601869
Cardiomyopathy, Dilated, 1J
Dilated cardiomyopathy, Congestive heart failure, Sensorineural hearing impairment, Abnormal left... OMIM:605362
Auditory Neuropathy, Autosomal Dominant 2
Abnormal speech discrimination, Sensorineural hearing impairment OMIM:620384
Deafness, Autosomal Recessive 113
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618410
Deafness, Autosomal Dominant 81
Abnormal vestibular function, Sensorineural hearing impairment OMIM:619500
Deafness, Autosomal Dominant 40
Abnormal vestibular function, Sensorineural hearing impairment OMIM:616357
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... OMIM:604559
Deafness, Autosomal Recessive 99
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618481
Deafness, Autosomal Dominant 74
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618140
Deafness, Autosomal Recessive 117
Abnormal vestibular function, Sensorineural hearing impairment OMIM:619174
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 66
Abnormal vestibular function, Sensorineural hearing impairment OMIM:616969
Deafness, Autosomal Dominant 71
Abnormal vestibular function, Sensorineural hearing impairment OMIM:617605
Deafness, Autosomal Dominant 53
Abnormal vestibular function, Sensorineural hearing impairment OMIM:609965
Deafness, Autosomal Dominant 25
Abnormal vestibular function, Sensorineural hearing impairment OMIM:605583
Cardiomyopathy, Familial Hypertrophic, 18
Hypertrophic cardiomyopathy, Atrial fibrillation, Paroxysmal atrial fibrillation OMIM:613874
Cardiomyopathy, Familial Hypertrophic, 20
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Atrial fibrillation OMIM:613876
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:613243
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... 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, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo... OMIM:619897
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Atrioventricular block, Congestive heart failure, Hypertrophic ca... OMIM:617047
Transient Neonatal Diabetes Mellitus
Hearing impairment, Maturity-onset diabetes of the young, Failure to thrive, Hyperglycemia, Trans... ORPHA:99886
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Atrial fibrillation, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter, Congestive heart f... ORPHA:300751
Atrial Septal Defect, Ostium Primum Type
Fixed splitting of the second heart sound, Atrioventricular block, Atrial flutter, Right-to-left ... ORPHA:99106
Cardiomyopathy, Dilated, 2I
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Supraventricular tac... OMIM:620462
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Desminopathy
Atrioventricular block, Concentric hypertrophic cardiomyopathy, Congestive heart failure, Suprave... ORPHA:98909
Cardiomyopathy, Dilated, 1Kk
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitati... OMIM:615248
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617182
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
High-frequency hearing impairment, Sensorineural hearing impairment OMIM:300066
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, EEG abnormality, Bradycardia, Simplified gyr... OMIM:618815
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, Hypertrophic cardiomyopathy, Vertigo, Palpitations,... OMIM:608758
Atrioventricular Dissociation
Congenital atrioventricular dissociation OMIM:209600
Congenital Myopathy 24
Abnormal circulating creatine kinase concentration, Facial palsy, First degree atrioventricular b... OMIM:617336
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Vertigo, Premature ventricular contraction, Syncope, Ventricular tachycardia, Ventricular fibrill... OMIM:614916
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia, Hypoproteinemia, Sensorineural hearing impairment OMIM:221400
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Cardiomyopathy, Supraventricular arrhythmia ORPHA:320360
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Jervell And Lange-Nielsen Syndrome
Torsade de pointes, Profound sensorineural hearing impairment, Arrhythmia, Syncope, Bilateral sen... ORPHA:90647
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... OMIM:614021
Trimethylaminuria
Tachycardia, Hypertension OMIM:602079
Long Qt Syndrome 14
T-wave alternans, 2:1 atrioventricular block, Prolonged QT interval, Ventricular fibrillation, Ca... OMIM:616247
Mitochondrial Complex I Deficiency, Nuclear Type 13
Decreased circulating carnitine concentration, Cerebral atrophy, Generalized dystonia, Hypertroph... OMIM:618235
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t... OMIM:611528
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ... OMIM:604400
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
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Abnormal left ventricular function, Cardiomyopathy, Heart block ORPHA:98912
Cardiomyopathy, Familial Hypertrophic, 2
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Angina pectoris, Atrial ... OMIM:115195
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Arrhythmia, Sudden cardiac death OMIM:212500
Jervell And Lange-Nielsen Syndrome 2
Torsade de pointes, Congenital sensorineural hearing impairment, Premature ventricular contractio... OMIM:612347
Tako-Tsubo Cardiomyopathy
Abnormal circulating B-type natriuretic peptide concentration, Mitral regurgitation, Arrhythmia, ... ORPHA:66529
Short Qt Syndrome 2
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... OMIM:609621
Myotonic Dystrophy 1
Atrial flutter, Cerebral atrophy, Facial diplegia, First degree atrioventricular block, Atrial fi... OMIM:160900
Cardiomyopathy, Familial Hypertrophic, 21
Hypertrophic cardiomyopathy, Atrial fibrillation OMIM:614676
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Mildly elevated creatine kinase, Bradycardia OMIM:620265
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... OMIM:614022
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Prolonged PR interval OMIM:108900
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... OMIM:613251
Brugada Syndrome 3
Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi... OMIM:611875
Brugada Syndrome 7
Atrial flutter, Prolonged P wave, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, ... OMIM:613120
Wild Type Attr Amyloidosis
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Auton... ORPHA:330001
Lipoyltransferase 1 Deficiency
Cerebellar atrophy, Increased total bilirubin, Hyperprolinemia, Hyperglutaminemia, Pulmonary arte... OMIM:616299
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, A... ORPHA:45452
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Decreased plasma free carnitine, Hyperalaninemia, Bradycardia, Brain at... OMIM:619048
Variegate Porphyria
Tachycardia OMIM:176200
Cardiomyopathy, Dilated, 1Oo
Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l... OMIM:620247
Abnormal Hair, Joint Laxity, And Developmental Delay
Tricuspid regurgitation, Recurrent otitis media, Mitral regurgitation, Sinus bradycardia OMIM:261990
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Decreased compound muscle action potential amplitude, Vestibular schwannoma OMIM:613641
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus, Beta-cell dysfunction OMIM:612227
Collagenoma, Familial Cutaneous
Vasculitis, Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Right ventricular ... OMIM:115250
Combined Oxidative Phosphorylation Deficiency 54
Periventricular nodular heterotopia, Tremor, Sensorineural hearing impairment, Optic disc pallor,... OMIM:619737
Acute Peripheral Arterial Occlusion
Abnormal capillary physiology, Supraventricular tachycardia, Abnormality of venous physiology, Ab... ORPHA:90064
Coenzyme Q10 Deficiency, Primary, 5
Cerebellar atrophy, Cerebral atrophy, Hyperalaninemia, Bradycardia, Dystonia OMIM:614654
Timothy Syndrome
Atrioventricular block, Hypocalcemia, Pulmonary arterial hypertension, Ventricular tachycardia, B... OMIM:601005
Non-Functioning Paraganglioma
Conductive hearing impairment, Sinus tachycardia, Congestive heart failure, Cranial nerve compres... ORPHA:94080
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia OMIM:126320
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Atrioventricular block, Cardiomyopathy, Hyperammonemia, Elevated circulating creatin... OMIM:212138
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:255100
Leber Hereditary Optic Neuropathy
Optic atrophy, Postural tremor, Arrhythmia, Ventricular preexcitation, Retinal telangiectasia ORPHA:104
Developmental And Epileptic Encephalopathy 101
Opisthotonus, Third degree atrioventricular block, Bradycardia OMIM:619814
Cardiomyopathy, Familial Hypertrophic, 17
Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Ventricular tachycardia, Atrial fibri... OMIM:613873
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy, Sensorineural hearing impairment OMIM:208750
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
Ventricular Tachycardia, Familial
Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy OMIM:192605
Atrial Fibrillation, Familial, 13
Aortic valve stenosis, Paroxysmal atrial fibrillation OMIM:615377
Mody
Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Pancreatic hypoplasi... ORPHA:552
Atrial Fibrillation, Familial, 12
Paroxysmal atrial fibrillation OMIM:614050
Long Qt Syndrome 1
Torsade de pointes, Hearing abnormality, Syncope, Prolonged QT interval, Ventricular fibrillation... OMIM:192500
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
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure OMIM:609909
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Bradycardia OMIM:616276
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block OMIM:615616
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Short Qt Syndrome 1
Shortened QT interval, Paroxysmal atrial fibrillation, Palpitations, Syncope, Cardiac arrest, Sud... OMIM:609620
Congenital Heart Defects, Multiple Types, 2
Aortic valve stenosis, Aortic regurgitation, Congestive heart failure, Left ventricular outflow t... OMIM:614980
Cardiomyopathy, Dilated, 2F
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:619747
Hjv Or Hamp-Related Hemochromatosis
Increased circulating ferritin concentration, Hypogonadism, Congenital hepatic fibrosis, Abnormal... ORPHA:79230
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc... OMIM:618920
Danon Disease
Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricular block, Increased Q... OMIM:300257
Cardiomyopathy, Dilated, 1Ii
Dilated cardiomyopathy, Mitral regurgitation, Elevated circulating creatine kinase concentration,... OMIM:615184
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Syncope, Ventricular fibrillation OMIM:603829
Acitretin/Etretinate Embryopathy
Cupped ear, Third degree atrioventricular block, Bradycardia, Bilateral sensorineural hearing imp... ORPHA:40366
Wolfram-Like Syndrome, Autosomal Dominant
Optic atrophy, Hearing impairment, Progressive hearing impairment, Sensorineural hearing impairme... OMIM:614296
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Cardiomyopathy, Familial Hypertrophic, 11
Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop... OMIM:612098
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Congestive heart failure, Left bundle branch block, Increased left ventri... OMIM:601493
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Cardiomyopathy, Vertigo, Palpitations, T-wave inversion, Arrhythmia, Ventricular tachycardia, Ven... ORPHA:263297
Sudden Cardiac Failure, Infantile
Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d... OMIM:617222
Combined Oxidative Phosphorylation Deficiency 10
Optic atrophy, Hypertrophic cardiomyopathy, Hyperammonemia, Hyperalaninemia, Bradycardia, Dystonia OMIM:614702
Sinus Node Disease And Myopia
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin OMIM:182190
Dystonia 23
Cerebral cortical atrophy, Cerebellar atrophy, Head tremor, Limb dystonia, Axial dystonia, Arrhyt... OMIM:614860
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Hypoglycemia, Progressive hearing impairment, Decreased serum testosteron... ORPHA:453533
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Atrial fibrillation, Dilated cardiomyopathy OMIM:617912
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cerebral atrophy, Progressive hearing impairment, Cardiomyopathy, Arrhythmia, Bradycardia OMIM:609286
Atrophoderma Vermiculata
Heart block ORPHA:79100
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Syncope, Ventricular tachycardia, Ventricular fibrillati... OMIM:603830
D-Glyceric Aciduria
Cerebral cortical atrophy, Sensorineural hearing impairment, Opisthotonus, Hypsarrhythmia, Bradyc... OMIM:220120
Cardiomyopathy, Familial Hypertrophic, 4
Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventr... OMIM:115197
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Ventricular arrhythmia, Dilated cardiomyopathy, Congestive hea... OMIM:600884
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Cupped ear, Hypertension, Aganglionic megacolon, Abnormal autonomic nervous system physiology, Ta... OMIM:613870
Coproporphyria, Hereditary
Tachycardia, Hypertension OMIM:121300
Hydroxykynureninuria
Tachycardia, Hypotension, Abnormal circulating tryptophan concentration, Congenital sensorineural... ORPHA:79155
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Shock, Premature ventricular contraction, Syncope, Prolonged QT interval, Cardiac arrest, Polymor... OMIM:615441
Muscle Filaminopathy
Cardiomyopathy, Extremely elevated creatine kinase, Abnormality of peripheral nervous system elec... ORPHA:171445
Ebstein Anomaly
Atrial standstill, Right bundle branch block, Ventricular preexcitation, Atrial fibrillation, Sud... OMIM:224700
Tetanus
Autonomic bladder dysfunction, Tremor, Elevated circulating creatine kinase concentration, Opisth... ORPHA:3299
Atrial Septal Defect, Ostium Secundum Type
Right ventricular failure, Atrial flutter, Congestive heart failure, Tricuspid regurgitation, Bun... ORPHA:99103
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... OMIM:608569
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Sho... OMIM:108950
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Premature ventricular contraction, Heart block ORPHA:1964
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Fasting hypoglycemia, Truncal obesity, Hypoinsu... OMIM:240900
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Optic atrophy, EEG with burst suppression, Bradycardia, Neuronal loss in central nervous system, ... OMIM:614498
Mahvash Disease
Vertigo, Type II diabetes mellitus, Recurrent pancreatitis, Pancreatic alpha-cell hyperplasia, In... OMIM:619290
Glutamine Deficiency, Congenital
Low-set ears, Hyperammonemia, Hypoglutaminemia, Bradycardia, Brain atrophy OMIM:610015
Cardiomyopathy, Dilated, 1Bb
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:612877
Kearns-Sayre Syndrome
Arrhythmia, Third degree atrioventricular block, Cardiomyopathy, Sensorineural hearing impairment OMIM:530000
Familial Thyroid Dyshormonogenesis
Sensorineural hearing impairment, Neonatal hyperbilirubinemia, Abnormal circulating thyroglobulin... ORPHA:95716
Hyperinsulinism Due To Ucp2 Deficiency
Hypertrophic cardiomyopathy, Palpitations, Syncope, Tachycardia, Increased C-peptide level, Decre... ORPHA:276556
Atrial Standstill 2
Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Palpitations, Atrial arr... OMIM:615745
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Pheochromocytoma/Paraganglioma Syndrome 3
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma, Pulsatile tinnitus OMIM:605373
Deafness, Autosomal Dominant 75
Abnormal cochlea morphology, Sensorineural hearing impairment OMIM:618778
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Premature ventricular contraction, Tachycardia, Syncope OMIM:192445
Muscular Dystrophy, Congenital, Lmna-Related
Paroxysmal atrial fibrillation, Ventricular tachycardia, Paroxysmal atrial tachycardia, Elevated ... OMIM:613205
Muscular Dystrophy, Becker Type
Arrhythmia, Elevated circulating creatine kinase concentration, Cardiomyopathy, Abnormal EKG OMIM:300376
Long Qt Syndrome 2
Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric... OMIM:613688
Familial Isolated Restrictive Cardiomyopathy
Tricuspid regurgitation, Hypertrophic cardiomyopathy, Mitral regurgitation, Pulmonary venous hype... ORPHA:75249
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Sensorin... ORPHA:154
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy OMIM:601382
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Congestive heart failure, Sensorineural hearing impairment, Paroxysmal atrial tach... ORPHA:49827
Acquired Methemoglobinemia
Vertigo, Palpitations, Arrhythmia, Syncope, Tachycardia ORPHA:464453
Neonatal Lupus Erythematosus
Atrioventricular block, Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial node ori... ORPHA:398124
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hyperinsul... ORPHA:276575
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia, Bradycardia ORPHA:95717
Heart-Hand Syndrome, Spanish Type
Sick sinus syndrome OMIM:140450
Brugada Syndrome 4
Atrial fibrillation, Syncope, Shortened QT interval OMIM:611876
Gitelman Syndrome
Hypermagnesemia, Prominent U wave, Abnormal T-wave, Vertigo, Hypomagnesemia, Palpitations, Hypoca... ORPHA:358
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ... OMIM:611878
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrioventricular block, Dilated cardiomyopathy, Increased circulating free fatty acid level, Hypo... ORPHA:26793
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Dilated cardiomyopathy, Ventricular escape rhythm, Increased LDL choleste... ORPHA:98855
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hyperinsul... ORPHA:276580
Aortic Aneurysm, Familial Thoracic 9
Atrial fibrillation OMIM:616166
Glycogen Storage Disease Xv
T-wave inversion, Paroxysmal ventricular tachycardia, Ventricular fibrillation, ST segment elevat... OMIM:613507
Naxos Disease
Cardiomyopathy, Congestive heart failure, Vertigo, Arrhythmia, Paroxysmal ventricular tachycardia... ORPHA:34217
Ebstein Malformation Of The Tricuspid Valve
Congestive heart failure, Cerebral ischemia, Arrhythmia, Atrial fibrillation, Sudden cardiac deat... ORPHA:1880
Pheochromocytoma/Paraganglioma Syndrome 1
Conductive hearing impairment, Palpitations, Hypertension associated with pheochromocytoma, Tachy... OMIM:168000
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve... OMIM:607450
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Epistaxis, Second degree atrioventricular block, Tinnitus, Hypokalemia, Pulmonary arterial hypert... ORPHA:369929
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Increased left vent... OMIM:613424
Methanol Poisoning
Inflammatory arteriopathy, Permanent atrial fibrillation, Hyperlipidemia, Cerebral hemorrhage, In... ORPHA:31825
Long Qt Syndrome 6
Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventricular fibrillatio... OMIM:613693
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Dilated cardiomyopathy, Sinus tachycardia, Congestive heart failure, Hypertrophic cardiomyopathy,... OMIM:255160
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Optic atrophy, Elevated circulating acylcarnitine concentration, Cerebral atrophy, Torsade de poi... OMIM:616878
Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ventricular escape r... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ventricular escape r... ORPHA:98853
Illum Syndrome
Calcinosis, Bradycardia OMIM:208155
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Optic atrophy, Atrioventricular block, Atrial flutter, Congestive... ORPHA:137675
Hereditary Coproporphyria
Hyponatremia, Tachycardia, Long hairs growing from helix of pinna, Abnormal circulating porphyrin... ORPHA:79273
Glossopharyngeal Neuralgia
Cranial nerve compression, Abnormal glossopharyngeal nerve morphology, Ear pain, Syncope, Bradyca... ORPHA:221098
Non-Syndromic Genetic Deafness
Prelingual sensorineural hearing impairment, Conductive hearing impairment, Progressive sensorine... ORPHA:87884
Lyme Disease
Arrhythmia, Atrioventricular block ORPHA:91546
Hyperinsulinism Due To Hnf1A Deficiency
Palpitations, Syncope, Tachycardia, Increased C-peptide level, Decreased circulating free fatty a... ORPHA:324575
X-Linked Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Hypertrophic cardiomyopathy, Ventricular escape rhythm, Increased LDL cho... ORPHA:98863
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Atrioventricular block, Right ventricular failure, Ab... ORPHA:1329
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Cardiogenic shock, Sinus tachycardia, Congesti... ORPHA:563
Hyperleucine-Isoleucinemia
Failure to thrive, Sensorineural hearing impairment OMIM:238340
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left v... OMIM:608751
Malignant Hyperthermia, Susceptibility To, 1
Hypotension, Hyperphosphatemia, Elevated circulating creatine kinase concentration, Tachycardia, ... OMIM:145600
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Combined Oxidative Phosphorylation Defect Type 39
Cerebral atrophy, Decreased nerve conduction velocity, Leg dystonia, Hypsarrhythmia, EEG abnormal... ORPHA:565624
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Deafness, Autosomal Dominant 86
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:620280
Deafness, Autosomal Dominant 44
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:607453
Arnold-Chiari Malformation Type I
Functional abnormality of the inner ear, Cranial nerve compression, Vertigo, Abnormality of the v... ORPHA:268882
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Absent vestibular function, Abnormal semicircular ca... OMIM:618013
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Cerebral atrophy, Interictal EEG abnormality, Optic disc pallor, Tachycardia ORPHA:79264
Sporadic Pheochromocytoma/Secreting Paraganglioma
Conductive hearing impairment, Sinus tachycardia, Congestive heart failure, Cranial nerve compres... ORPHA:276621
Orthostatic Hypotension 1
Hypomagnesemia, Elevated circulating dihydroxyphenylacetic acid concentration, Increased blood ur... OMIM:223360
Sick Sinus Syndrome 3, Susceptibility To
Sick sinus syndrome OMIM:614090
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Progressive sensorineural hearing impairment, Congestive heart failure, Arrhythmia, Wolff-Parkins... OMIM:540000
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia, Tachycardia, Palpitations OMIM:188580
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, Premature ventricular cont... OMIM:609040
Mitochondrial Complex I Deficiency, Nuclear Type 37
Cerebral cortical atrophy, Cerebellar atrophy, Cerebral atrophy, Opisthotonus, Pulmonary arterial... OMIM:619272
Familial Idiopathic Dilatation Of The Right Atrium
Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro... ORPHA:1677
Mcleod Syndrome
Dilated cardiomyopathy, Cardiomyopathy, Reduced haptoglobin level, Elevated circulating creatine ... OMIM:300842
Deafness, Dystonia, And Cerebral Hypomyelination
Optic atrophy, Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Sensorineural hearing imp... OMIM:300475
Wolfram-Like Syndrome
Optic atrophy, Male hypogonadism, Congenital sensorineural hearing impairment, Glucose intoleranc... ORPHA:411590
Infant Acute Respiratory Distress Syndrome
Tachycardia, Hypotension, Cardiac arrest, Bradycardia ORPHA:70587
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Dilated cardiomyopathy, Left ventricular systolic dysfunction, Elevated circulating creatine kina... ORPHA:206559
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Abnormal atrioventricular conduction, Hearing impairment, Cardiomyopathy ORPHA:329336
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hypokalemia, Tachycardia, Tremor OMIM:613239
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Cerebellar atrophy, Sensorineural hearing impairment, Elevated circulating creatine kinase concen... OMIM:618098
Coronary Arterial Fistula
Aortic valve stenosis, Continuous heart murmur, Congestive heart failure, Abnormal EKG, Palpitati... ORPHA:2041
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Atrioventricular block, First degree atrioventricular block ORPHA:392
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Dilated cardiomyopathy, Cerebral atrophy, Generalized dystonia, Neurodegeneration, Hypsarrhythmia... OMIM:618321
Fixed Subaortic Stenosis
Aortic regurgitation, Congestive heart failure, Paroxysmal atrial fibrillation, Palpitations, Mit... ORPHA:3092
High Altitude Pulmonary Edema
Vertigo, Tachycardia ORPHA:330012
Rigid Spine Syndrome
Cardiac conduction abnormality ORPHA:97244
Pulmonary Hypertension, Primary, 4
Pulmonary arterial hypertension with lack of acute response to NO challenge, Atrial flutter, Incr... OMIM:615344
Adult-Onset Cervical Dystonia, Dyt23 Type
Cerebral cortical atrophy, Cerebellar atrophy, Head tremor, Axial dystonia, Craniofacial dystonia... ORPHA:420492
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Hyperuricemia, Sensorineural hearing impairment, Arrhythmia, Hypertension ORPHA:3222
Lipodystrophy, Congenital Generalized, Type 4
Bradycardia, Elevated circulating creatine kinase concentration, Prolonged QT interval, Hypertrig... OMIM:613327
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... ORPHA:320401
Snakebite Envenomation
Epistaxis, Hypotension, Cardiogenic shock, Cerebral ischemia, Hyponatremia, Tachycardia, Intracra... ORPHA:449285
Pediatric-Onset Graves Disease
Sinus tachycardia, Congestive heart failure, Palpitations, Tremor, Atrial fibrillation, Hypertension ORPHA:525731
Pheochromocytoma--Islet Cell Tumor Syndrome
Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr... OMIM:171420
Long Qt Syndrome 12
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval OMIM:612955
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Increased total bilirubin, Congestive heart failure ORPHA:90037
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypotension, Reduced left ventricular ejection fraction, Elevated circulating creatinine concentr... ORPHA:542323
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Cardiomyopathy, Sensorineural hearing impairment, Absent brainstem auditory respon... ORPHA:1215
Hereditary Pulmonary Alveolar Proteinosis
Tachycardia, Abnormal circulating protein concentration, Elevated circulating carcinoembryonic an... ORPHA:264675
Autosomal Dominant Progressive External Ophthalmoplegia
Dilated cardiomyopathy, Cerebellar atrophy, Hearing impairment, Resting tremor, Reduced left vent... ORPHA:254892
Ethylene Glycol Poisoning
Hypotension, Hyperkalemia, Congestive heart failure, Shock, Hypocalcemia, Prolonged QT interval, ... ORPHA:31826
Refsum Disease
Sensorineural hearing impairment, Cardiomyopathy, Heart block ORPHA:773
Fabry Disease
Optic atrophy, Atrioventricular block, Hearing impairment, Abnormal circulating lipid concentrati... ORPHA:324
Short Qt Syndrome 3
Tachycardia, Palpitations, Shortened QT interval OMIM:609622
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
Cataract-Ataxia-Deafness Syndrome
Decreased nerve conduction velocity, Adult onset sensorineural hearing impairment, Tremor, Sensor... ORPHA:1368
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Optic atrophy, Undetectable visual evoked potentials, Arm dystonia, Progressive sensorineural hea... OMIM:601338
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response, Bradycardia OMIM:608800
Glycogen Storage Disease Iv
Abnormal circulating creatine kinase concentration, Portal hypertension, Cardiomyopathy, Bradycardia OMIM:232500
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit... OMIM:615916
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia, Second degree atrioventricular block, Pulmonary arterial hypertension, EEG abnor... OMIM:617021
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hyperammonemia, Ventricular tachycardia, Elevated circulating creatine ki... OMIM:600649
Combined Oxidative Phosphorylation Deficiency 38
Low-set ears, Hypertrophic cardiomyopathy, Hyperalaninemia, Wolff-Parkinson-White syndrome, Poste... OMIM:618378
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, EEG with burs... OMIM:261740
Mercury Poisoning
Hypotension, Tremor, Hypokalemia, Tachycardia, Dystonia, Hypertension ORPHA:330021
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Aborted sudden cardiac death, Polymorphic and polytopic ventricular extrasystoles, Torsade de poi... OMIM:115000
Scapuloperoneal Myopathy, X-Linked Dominant
Right bundle branch block, Elevated circulating creatine kinase concentration OMIM:300695
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentration, Persistent fetal... OMIM:618775
Glycogen Storage Disease Ii
Sinus tachycardia, Hearing impairment, Shortened PR interval, Elevated circulating creatine kinas... OMIM:232300
X-Linked Spinocerebellar Ataxia Type 3
Optic atrophy, Sensorineural hearing impairment ORPHA:85297
Myotonic Dystrophy 2
Palpitations, Elevated circulating creatine kinase concentration, Premature ventricular contracti... OMIM:602668
Infantile Cerebellar-Retinal Degeneration
Optic atrophy, Cerebral cortical atrophy, Cerebellar atrophy, Failure to thrive, Decreased body w... OMIM:614559
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Hyperinsulinemia, Hypoketotic hypoglycemia, Hypophosphatemic rickets, Large for gesta... ORPHA:263455
Hereditary Pheochromocytoma-Paraganglioma
Conductive hearing impairment, Sinus tachycardia, Congestive heart failure, Cranial nerve compres... ORPHA:29072
Intellectual Developmental Disorder With Keratoconus, Febrile Seizures, And Sinoatrial Block
Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin OMIM:609438
Stiff-Person Syndrome
Tachycardia, Opisthotonus, Hypertension, Exaggerated startle response OMIM:184850
Combined Oxidative Phosphorylation Deficiency 17
Hypertrophic cardiomyopathy, Sensorineural hearing impairment, Congestive heart failure OMIM:615440
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Hypertrophic cardiomyopathy, Tachycardia, Elevated circulating creatine kinase concentration, Hig... ORPHA:368
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Decreased nerve conduction velocity, Arrhythmia ORPHA:99944
Brugada Syndrome 5
Bundle branch block, Ventricular fibrillation, ST segment elevation OMIM:612838
Oculopharyngodistal Myopathy 1
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Tremor, Sens... OMIM:164310
Deafness, Autosomal Dominant 77
Tinnitus, Abnormal inner ear morphology, Sensorineural hearing impairment OMIM:618915
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Increased total bilirubin ORPHA:90036
Congenital Disorder Of Glycosylation, Type Im
Increased circulating free fatty acid level, Dilated cardiomyopathy, Hypsarrhythmia, Bradycardia OMIM:610768
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Infantile Refsum Disease
Optic atrophy, Hearing impairment, Cardiomyopathy, Elevated circulating phytanic acid concentrati... ORPHA:772
Congenitally Corrected Transposition Of The Great Arteries
Arrhythmia, Heart block, Aortic regurgitation, Third degree atrioventricular block, Tricuspid reg... ORPHA:216694
Pseudo-Torch Syndrome 2
Polymicrogyria, Cerebral hemorrhage, Gray matter heterotopia, Bradycardia OMIM:617397
Arterial Calcification, Generalized, Of Infancy, 2
Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regurgitation, Reduced ... OMIM:614473
Neuroleptic Malignant Syndrome
Hypertensive crisis, Hypotension, Oculogyric crisis, Pulmonary embolism, Hyperphosphatemia, Hypom... ORPHA:94093
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Mitral r... OMIM:615373
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Abnormal circulating creatine kinase concentration, Sensorineural hearing impairment, Absent brai... OMIM:617519
Andersen-Tawil Syndrome
Low-set ears, Dilated cardiomyopathy, Prominent U wave, Polymorphic and polytopic ventricular ext... ORPHA:37553
Eisenmenger Syndrome
Abnormal circulating B-type natriuretic peptide concentration, Elevated jugular venous pressure, ... ORPHA:97214
Cardiomyopathy, Familial Hypertrophic, 25
Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome OMIM:607487
Mohr-Tranebjaerg Syndrome
Optic atrophy, Abnormal vestibular function, Prelingual sensorineural hearing impairment, Global ... ORPHA:52368
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Low-set ears, Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas, O... ORPHA:65288
Ravine Syndrome
Abnormal auditory evoked potentials, Failure to thrive, Atrophy/Degeneration affecting the brains... ORPHA:99852
16P12.1P12.3 Triplication Syndrome
Low-set ears, Tachycardia, Large earlobe ORPHA:485405
Pheochromocytoma/Paraganglioma Syndrome 4
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma, Pulsatile tinnitus OMIM:115310
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Retinal hemorrhage, Elevated circulating creatine kinase concentration, Raynaud phenomenon, Supra... OMIM:611773
Muscular Dystrophy, Cardiac Type
Elevated circulating creatine kinase concentration, Cardiomyopathy, Abnormal EKG OMIM:309930
Relapsing Fever
Epistaxis, Hypotension, Increased total bilirubin, Elevated circulating creatinine concentration,... ORPHA:91547
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Second degree atrioventricular block, Hypomagnesemia, Palpitations, Tremor,... ORPHA:79102
Naxos Disease
Dilated cardiomyopathy, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations,... OMIM:601214
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Atrial flutter, Congestive heart failure, Tricuspid regurgitation, Mitral ... ORPHA:324410
Superficial Siderosis
Cerebellar atrophy, Vertigo, Abnormality of the vestibulocochlear nerve, Dysgyria, Abnormality of... ORPHA:247245
Brugada Syndrome 6
Cardiac arrest, ST segment elevation, Ventricular fibrillation OMIM:613119
Double Outlet Right Ventricle
Heart murmur, Hypocalcemia, Abnormality of cartilage of external ear, Tachycardia, Pulmonic stenosis ORPHA:3426
Steinert Myotonic Dystrophy
Cerebral cortical atrophy, Dilated cardiomyopathy, Left ventricular systolic dysfunction, Prolong... ORPHA:273
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Second degree atrioventricular block, Decreased circulating renin level, Hypokalemia, Pulmonary a... OMIM:615474
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia ORPHA:226313
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Arrhythmia, Pachygyria, Atrioventricular block ORPHA:93317
Hemangioma-Thrombocytopenia Syndrome
Ventricular arrhythmia, Hyperkalemia OMIM:141000
Loeffler Endocarditis
Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Congestive heart failure... ORPHA:75566
Congenitally Uncorrected Transposition Of The Great Arteries
Congestive heart failure, Abnormal QRS complex, Heart murmur, Abnormality of blood circulation, C... ORPHA:860
Middle Ear Neuroendocrine Tumor
Neuroendocrine neoplasm, Abnormal tympanic membrane morphology, Unilateral conductive hearing imp... ORPHA:100084
Donohue Syndrome
Low-set ears, Hepatic fibrosis, Precocious puberty, Postprandial hyperglycemia, Cholestasis, Hype... OMIM:246200
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Low-set ears, Cerebral cortical atrophy, Hypotension, Cystathioninemia, Hypomethioninemia, Tremor... OMIM:277400
Congenital Fibrinogen Deficiency
Tachycardia, Opisthotonus, Internal hemorrhage ORPHA:335
Congenital-Onset Steinert Myotonic Dystrophy
Bundle branch block, First degree atrioventricular block ORPHA:589821
Short Qt Syndrome 7
Shortened QT interval, Syncope, Ventricular fibrillation, Cardiac arrest, Sudden cardiac death OMIM:620231
Partial Atrioventricular Septal Defect
Aortic valve stenosis, Atrial flutter, Transient ischemic attack, Palpitations, Mitral regurgitat... ORPHA:1330
Adenine Phosphoribosyltransferase Deficiency
Atrial fibrillation, Hypertension ORPHA:976
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Sensorineural hearing ... OMIM:600791
Cap Myopathy
Facial palsy, Sinus tachycardia, Reduced systolic function ORPHA:171881
Hyperoxaluria, Primary, Type I
Optic atrophy, Atrioventricular block, Arterial occlusion, Hyperoxaluria, Intermittent claudicati... OMIM:259900
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrioventricular block, Papilledema, Hypertension ORPHA:371428
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Global brain atrophy, Cerebellar atrophy, Congestive heart failure, Tricusp... OMIM:620066
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Cardiomyopathy, Polymicrogyria, Decreased plasm... ORPHA:228308
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Sinus bradycardia OMIM:619482
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Autoimmune Hypoparathyroidism
Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Hypocalcemia, Prolonged QT interval, ... ORPHA:36913
Serotonin Syndrome
Hypotension, Abnormality of the autonomic nervous system, Tremor, Tachycardia, Hypertension ORPHA:43116
Charcot-Marie-Tooth Disease, Type 4K
Hearing impairment, Peripheral demyelination, Sensorineural hearing impairment, Axonal loss, Dyst... OMIM:616684
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Syncope, Dilated cardiomyopathy, Ventricular tachycardia OMIM:615821
Deafness, X-Linked 2
Dilatated internal auditory canal, Conductive hearing impairment, Progressive sensorineural heari... OMIM:304400
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Hearing impairment, Abnormality of exocrine pancreas physiology, Hepatic steatosis, Aplasia/Hypop... ORPHA:93111
Interatrial Communication
Atrial flutter, Congestive heart failure, Palpitations, Right axis deviation, Pulmonary arterial ... ORPHA:1478
Cirrhotic Cardiomyopathy
Abnormal circulating B-type natriuretic peptide concentration, Congestive heart failure, Elevated... ORPHA:57777
Porphyria Variegata
Abnormal circulating porphyrin concentration, Hyponatremia, Abnormal autonomic nervous system phy... ORPHA:79473
Pheochromocytoma
Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr... OMIM:171300
Heart Block, Congenital
Atrioventricular block, Cardiomyopathy, Absent atrioventricular node, Mitral regurgitation, Atria... OMIM:234700
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hearing impairment, Hypertrophic cardiomyopathy, Shortened PR interval, Elevated circulating crea... ORPHA:308552
Absence Of The Pulmonary Artery
Atrial flutter, Congestive heart failure, Abnormal EKG, Reduced left ventricular ejection fractio... ORPHA:980
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Low-set ears, Bradycardia, Retinal hemorrhage, Tachycardia, Hypertension OMIM:614653
Autoimmune Hemolytic Anemia, Warm Type
Tachycardia, Congestive heart failure ORPHA:90033
Developmental And Epileptic Encephalopathy 111
Low-set ears, Sinus tachycardia, Polymicrogyria, Premature ventricular contraction, Hypertension OMIM:620504
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Cerebellar atrophy, Ventricular bigeminy, Elevated circulating creatine kinase concentration, Arr... OMIM:610131
Sheehan Syndrome
Vertigo, Palpitations, Sensorineural hearing impairment, Hyponatremia, Orthostatic hypotension, B... ORPHA:91355
Ventricular Fibrillation, Paroxysmal Familial, 2
Premature ventricular contraction, Sudden cardiac death, Ventricular fibrillation OMIM:612956
Deafness, Autosomal Dominant 50
Sensorineural hearing impairment, Tinnitus, Progressive sensorineural hearing impairment, Progres... OMIM:613074
3-Methylglutaconic Aciduria, Type Viii
Cerebral atrophy, Tremor, Sensorineural hearing impairment, Bradycardia, Dystonia OMIM:617248
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Low-set ears, Conductive hearing impairment, Arrhythmia, Paroxysmal supraventricular tachycardia,... OMIM:617877
Perlman Syndrome
Low-set ears, Abnormal pancreas morphology, Hyperinsulinemia, Cryptorchidism, Hepatomegaly, Thick... ORPHA:2849
Solitary Fibrous Tumor
Hypoglycemia, Recurrent hypoglycemia, Hypophosphatemic rickets, Neoplasm of the liver, Weight los... ORPHA:2126
Rhizomelic Chondrodysplasia Punctata, Type 5
Sinus tachycardia OMIM:616716
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Orthostatic hypoten... OMIM:223900
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, De... ORPHA:206436
Congenital Disorder Of Glycosylation, Type It
Aborted sudden cardiac death, Dilated cardiomyopathy, Recurrent otitis media, Elevated circulatin... OMIM:614921
Necrotizing Enterocolitis
Shock, Hypotension, Hyponatremia, Bradycardia ORPHA:391673
Encephalitis Lethargica
Tremor, Bradycardia ORPHA:83600
Benign Schwannoma
Peripheral schwannoma, Vertigo, Schwannoma, Abnormal cranial nerve morphology, Hearing abnormalit... ORPHA:252164
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating acylcarnitine concentration, Hypotension, Decreased circulating carnitine co... ORPHA:159
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Elevated circulating creatine kinase concentration, Right bundle branch block, Bilateral facial p... ORPHA:254361
Cholera
Hypovolemic shock, Hypotension, Abnormal blood ion concentration, Hypocalcemia, Hypokalemia, Hypo... ORPHA:173
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Arrhythmia, Cardiomyopathy, Sensorineural hearing impairment OMIM:249270
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia OMIM:229700
Mucopolysaccharidosis Type 3
Optic atrophy, Atrioventricular block, Central nervous system degeneration, Conductive hearing im... ORPHA:581
Refsum Disease, Classic
Cardiomyopathy, Congestive heart failure, Elevated circulating phytanic acid concentration, Senso... OMIM:266500
Isolated Atp Synthase Deficiency
Optic atrophy, Cerebral cortical atrophy, Dilated cardiomyopathy, Cerebellar atrophy, Hypertrophi... ORPHA:254913
Congenital Myopathy 22A, Classic
Tricuspid regurgitation, Mildly elevated creatine kinase, Bradycardia OMIM:620351
Scorpion Envenomation
Cardiogenic shock, Prominent U wave, Congestive heart failure, Bundle branch block, Cardiac condu... ORPHA:466677
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Hypothyroidism Due To Tsh Receptor Mutations
Neonatal hyperbilirubinemia, Increased circulating thyroglobulin concentration, Bradycardia ORPHA:90673
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Hepatitis, Abnormal pan... ORPHA:139507
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Cerebral cortical atrophy, Cerebellar atrophy, Elevated circulating creatine kinase concentration... OMIM:616479
Proprotein Convertase 1/3 Deficiency
Elevated circulating proinsulin concentration, Obesity, Reactive hypoglycemia, Hypogonadotropic h... OMIM:600955
Familial Dysautonomia
Optic atrophy, Hyponatremia, Orthostatic hypotension, Tachycardia, Hypertension ORPHA:1764
Malignant Hyperthermia Of Anesthesia
Hyperphosphatemia, Supraventricular tachycardia, High-output congestive heart failure, Premature ... ORPHA:423
Hyperthyroidism, Nonautoimmune
Tachycardia, Increased circulating thyroglobulin concentration OMIM:609152
Combined Oxidative Phosphorylation Deficiency 15
Optic atrophy, Tremor, Shortened PR interval, Wolff-Parkinson-White syndrome, Optic disc pallor, ... OMIM:614947
Gitelman Syndrome
Hypotension, Hypomagnesemia, Vertigo, Palpitations, Hypokalemia, Ventricular tachycardia, Prolong... OMIM:263800
20P12.3 Microdeletion Syndrome
Thickened helices, Microtia, Wolff-Parkinson-White syndrome ORPHA:261295
Renal Nutcracker Syndrome
Tachycardia, Syncope, Orthostatic hypotension, Abnormal autonomic nervous system physiology ORPHA:71273
Cocaine Intoxication
Diffuse alveolar hemorrhage, Hypotension, Prolonged QRS complex, Ischemic stroke, Tremor, Elevate... ORPHA:90068
Meier-Gorlin Syndrome 7
Low-set ears, Second degree atrioventricular block, Hearing impairment, Sensorineural hearing imp... OMIM:617063
Proximal Spinal Muscular Atrophy
Facial diplegia, Bradycardia ORPHA:70
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Pancreatic hypoplasia, Hearing impairment, Glycosur... ORPHA:99885
Atrial Septal Defect, Coronary Sinus Type
Right ventricular failure, Bundle branch block, Transient ischemic attack, Palpitations, Left-to-... ORPHA:99104
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Reduced left ventricul... OMIM:613426
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Hearing impairment, Gray matter heterotopia, Ventricular arrhythmia, Overfolded helix, Posteriorl... OMIM:620475
Visceral Neuropathy, Familial, 2, Autosomal Recessive
Short-segment aganglionic megacolon, Peripheral axonal neuropathy, Sensorineural hearing impairment OMIM:619465
Leopard Syndrome 1
Low-set ears, Third degree atrioventricular block, Hypertrophic cardiomyopathy, Bundle branch blo... OMIM:151100
Craniometaphyseal Dysplasia
Abnormal cranial nerve morphology, Facial palsy, Conductive hearing impairment, Sensorineural hea... ORPHA:1522
Polymyositis
Vasculitis, Gastrointestinal hemorrhage, Abnormal atrioventricular conduction, Dilated cardiomyop... ORPHA:732
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia, Neonatal hyperbilirubinemia, Hyperalaninemia, Hyperuricemia ORPHA:348
Branchiootic Syndrome 1
Low-set ears, Dilatated internal auditory canal, Cupped ear, Sensorineural hearing impairment, Mi... OMIM:602588
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:601596
Otosclerosis 7
Otosclerosis, Conductive hearing impairment, Hearing impairment, Progressive hearing impairment, ... OMIM:611572
Porphyria, Acute Intermittent
Tachycardia, Hypertension OMIM:176000
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Abnormal T-wave, Palpitations, Decreased circulating renin level, Tinnitus, Hypokalemi... ORPHA:231625
Primary Hyperoxaluria
Optic atrophy, Arterial occlusion, Cardiomyopathy, Hyperoxaluria, Intermittent claudication, Rayn... ORPHA:416
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Optic atrophy, Elevated circulating acylcarnitine concentration, Global brain atrophy, Abnormal E... ORPHA:480864
Noonan Syndrome With Multiple Lentigines
Hypertrophic cardiomyopathy, Bundle branch block, Low-set, posteriorly rotated ears, Sensorineura... ORPHA:500
Hypertriglyceridemia 1
Hypopituitarism, Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Decreased motor nerve conduction velocity, Failure to thrive, Exocrine pancreatic insufficiency, ... ORPHA:456312
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hypertrophic cardiomyopathy, Congestive heart failure, Wolff-Parkinson-White syndrome OMIM:618234
Isolated Right Ventricular Hypoplasia
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... ORPHA:439
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Sepsis In Premature Infants
Elevated circulating C-reactive protein concentration, Tachycardia, Hypotension, Bradycardia ORPHA:90051
Cardiogenic Shock
Hypotension, Right ventricular failure, Abnormal left ventricular function, Congestive heart fail... ORPHA:97292
Acromesomelic Dysplasia 4
Low-set ears, Third degree atrioventricular block OMIM:619636
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen... OMIM:601455
Lujo Hemorrhagic Fever
Hypotension, Resting tremor, Shock, Elevated circulating C-reactive protein concentration, Bradyc... ORPHA:319213
Deafness, Autosomal Recessive 103
Abnormal vestibular function, Vestibular areflexia, Sensorineural hearing impairment OMIM:616042
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilated cardiomyopathy, Histiocytoid cardiomyopathy, Ventricular tachycardia, Ventricular fibrill... OMIM:300952
Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux
Syncope, Sensorineural hearing impairment OMIM:608088
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Angina pectoris, Arrhythmia, Syncope, Hypertension, Systolic heart... ORPHA:3193
Leber Optic Atrophy
Optic atrophy, Postural tremor, Arrhythmia, Dystonia, Optic neuropathy OMIM:535000
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Glucose intolerance, Hepatic steatosis, Cirrhosis, ... OMIM:606069
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Heari... OMIM:600501
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Hypotension, Shock, Elevated circulating creatinine concentration, Hypocalcemia,... ORPHA:36234
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia, Hypercholesterolem... ORPHA:90674
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Optic atrophy, Cerebral cortical atrophy, Cerebellar atrophy, Tricuspid regurgitation, Mitral reg... OMIM:619576
Friedreich Ataxia
Optic atrophy, Decreased amplitude of sensory action potentials, Abnormal EKG, Hypertrophic cardi... OMIM:229300
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure OMIM:605676
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial flutter OMIM:601927
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Optic atrophy, Vestibular areflexia, Intention tremor, Sensorineural hearing impairment ORPHA:504476
Adult-Onset Autosomal Dominant Leukodystrophy
Upper limb postural tremor, Abnormal auditory evoked potentials, Abnormality of somatosensory evo... ORPHA:99027
Congenital Left Ventricular Aneurysm
Arrhythmia, Congestive heart failure, Abnormal ST segment, Abnormal T-wave ORPHA:1055
Rh Deficiency Syndrome
Tachycardia, Hyperbilirubinemia, Reduced haptoglobin level ORPHA:71275
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Brachial plexus neuropathy, Reduced left ventricular ejection fraction, Elevated ci... ORPHA:268
Cartilage-Hair Hypoplasia
Cardiomyopathy, Low-set, posteriorly rotated ears, Hypocalcemia, Aganglionic megacolon, EEG abnor... ORPHA:175
Carney Triad
Gastrointestinal hemorrhage, Tachycardia, Arrhythmia, Hypertension ORPHA:139411
Isolated Succinate-Coq Reductase Deficiency
Hypertrophic cardiomyopathy, Abnormal atrioventricular conduction, Abnormal left ventricular func... ORPHA:3208
Leptospirosis
Hypotension, Pulmonary hemorrhage, Arrhythmia, Papilledema, First degree atrioventricular block, ... ORPHA:509
Juvenile Dermatomyositis
Vasculitis, Gastrointestinal hemorrhage, Cardiomyopathy, Bundle branch block, Elevated circulatin... ORPHA:93672
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Sensorineural hearing impairment, Optic nerve hypoplasia, Bradycardia ORPHA:226307
Acute Intermittent Porphyria
Hyponatremia, Tachycardia, Hypertension, Tremor ORPHA:79276
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia, Optic atrophy, Congestive heart failure, Hypertrophic cardiomyopathy, Tricuspid ... ORPHA:505248
Tropical Pancreatitis
Insulin-dependent but ketosis-resistant diabetes, Pancreatic adenocarcinoma, Chronic calcifying p... ORPHA:103918
Crimean-Congo Hemorrhagic Fever
Tachycardia, Diffuse alveolar hemorrhage, Bundle branch block, Hemothorax, Hemoperitoneum, Bradyc... ORPHA:99827
Aceruloplasminemia
Blepharospasm, Decreased circulating iron concentration, Abnormal pancreas morphology, Increased ... ORPHA:48818
Imerslund-Gräsbeck Syndrome
Tachycardia ORPHA:35858
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG OMIM:178650
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Aganglionic megacolon, Arrhythmia ORPHA:2151
Combined Oxidative Phosphorylation Deficiency 33
Cardiomyopathy, EEG with burst suppression, Elevated circulating creatine kinase concentration, S... OMIM:617713
Graft Versus Host Disease
Tachycardia, Hyperbilirubinemia ORPHA:39812
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Dilated cardiomyopathy, Ventricular bigeminy, Tricuspid regurgitation, Left ventricular systolic ... OMIM:620519
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Sensorineural ... ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Sensorineural ... ORPHA:529799
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Premature ventricular contraction, Elevated circulating creatine kinase concentration OMIM:617072
Mirizzi Syndrome
Tachycardia, Hyperbilirubinemia ORPHA:521219
Exercise-Induced Malignant Hyperthermia
Hypotension, Abnormal pulse pressure, Hyperphosphatemia, Sinus tachycardia, Abnormal T-wave, Vert... ORPHA:466650
Neurofibromatosis, Type Iii, Mixed Central And Peripheral
Paraspinal neurofibroma, Bilateral vestibular schwannoma, Palmar neurofibroma OMIM:162260
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Cardiomyopathy, Abnormal EKG, Congestive heart failure, Elevated circulat... OMIM:310200
Progeria-Short Stature-Pigmented Nevi Syndrome
Progressive sensorineural hearing impairment, Supraventricular arrhythmia ORPHA:2959
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Cerebellar atrophy, Cerebral atrophy, Sensorineural hearing ... OMIM:619260
Otosclerosis 11
Absence of acoustic reflex, Otosclerosis, Conductive hearing impairment, Sensorineural hearing im... OMIM:620576
Deafness, Autosomal Dominant 64
Tinnitus, Sensorineural hearing impairment OMIM:614152
Deafness, Autosomal Dominant 67
Tinnitus, Sensorineural hearing impairment OMIM:616340
Deafness, Autosomal Dominant 36
Tinnitus, Sensorineural hearing impairment OMIM:606705
Deafness, Y-Linked 1
Tinnitus, Sensorineural hearing impairment OMIM:400043
Deafness, Autosomal Dominant 43
Tinnitus, Sensorineural hearing impairment OMIM:608394
Deafness, Autosomal Dominant 33
Tinnitus, Sensorineural hearing impairment OMIM:614211
Deafness, Autosomal Dominant 72
Tinnitus, Sensorineural hearing impairment OMIM:617606
Deafness, Autosomal Dominant 82
Tinnitus, Sensorineural hearing impairment OMIM:619804
Legius Syndrome
Hearing impairment, Vestibular schwannoma, Paroxysmal atrial tachycardia, Dystonia, Pulmonic sten... ORPHA:137605
Mitochondrial Dna-Associated Leigh Syndrome
Optic atrophy, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cardiac conduction abnormalit... ORPHA:255210
Hemorrhagic Fever-Renal Syndrome
Epistaxis, Hypotension, Subconjunctival hemorrhage, Hyperphosphatemia, Shock, Elevated circulatin... ORPHA:340
Mucopolysaccharidosis, Type Vi
Sinus tachycardia, Cardiomyopathy, Hearing impairment, Tricuspid regurgitation, Mitral regurgitat... OMIM:253200
Cockayne Syndrome Type 1
Optic atrophy, Hearing impairment, Abnormality of peripheral nerve conduction, Tremor, Absent bra... ORPHA:90321
Pancreatic Agenesis 1
Neonatal insulin-dependent diabetes mellitus, Pancreatic hypoplasia, Failure to thrive, Exocrine ... OMIM:260370
Bohring-Opitz Syndrome
Low-set, posteriorly rotated ears, Optic atrophy, Bradycardia ORPHA:97297
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement
Vestibular areflexia, Sensorineural hearing impairment OMIM:609006
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Truncal titubation, Decreased motor n... OMIM:610532
Atrial Septal Defect 1
Aortic valve stenosis, Second degree atrioventricular block OMIM:108800
Melas
Optic atrophy, Cerebral cortical atrophy, Dilated cardiomyopathy, Cardiomyopathy, Concentric hype... ORPHA:550
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials OMIM:617523
Branchiootic Syndrome
Abnormality of the outer ear, Conductive hearing impairment, Atresia of the external auditory can... ORPHA:52429
Holt-Oram Syndrome
Tricuspid regurgitation, Left ventricular noncompaction cardiomyopathy, Atrioventricular dissocia... OMIM:142900
Pendred Syndrome
Vertigo, Sensorineural hearing impairment, Enlarged vestibular aqueduct, Abnormality of the inner... ORPHA:705
Systemic Mastocytosis With Associated Hematologic Neoplasm
Tachycardia, Hypotension, Syncope ORPHA:98849
Hypothyroidism, Congenital, Nongoitrous, 2
Hyperbilirubinemia, Increased circulating thyroglobulin concentration, Bradycardia OMIM:218700
Cardiac Diverticulum
Aortic valve stenosis, Congestive heart failure, Abnormal EKG, Palpitations, Mitral stenosis, Pre... ORPHA:1686
Yellow Fever
Shock, Reduced left ventricular ejection fraction, Elevated circulating creatinine concentration,... ORPHA:99829
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Low-set ears, Optic atrophy, Cerebellar atrophy, Cerebral atrophy, Right bundle branch block, Pos... OMIM:618590
Marburg Hemorrhagic Fever
Hypoalbuminemia, Hypotension, Subconjunctival hemorrhage, Shock, Elevated circulating creatinine ... ORPHA:99826
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Abnormal atrioventricular conduction, Congestive heart failure, Hypertrophic cardiomyopathy, Decr... ORPHA:280365
Cockayne Syndrome A
Optic atrophy, Abnormal auditory evoked potentials, Cerebellar atrophy, Cerebral atrophy, Decreas... OMIM:216400
Chronic Thromboembolic Pulmonary Hypertension
Right ventricular failure, Pulmonary embolism, Increased HDL cholesterol concentration, Congestiv... ORPHA:70591
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hearing impairment, Cerebral atrophy, Decreased nerve conduction velocity, Short-segment aganglio... OMIM:609136
45,X/46,Xy Mixed Gonadal Dysgenesis
Hearing impairment, Low-set, posteriorly rotated ears, Recurrent otitis media, Prolonged QT inter... ORPHA:1772
Cockayne Syndrome B
Optic atrophy, Abnormal auditory evoked potentials, Cerebral atrophy, Decreased nerve conduction ... OMIM:133540
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... ORPHA:2298
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Cochlear aplasia, Abnormal semicircular canal morpho... OMIM:619274
Alternating Hemiplegia Of Childhood
Cardiomyopathy, Abnormal T-wave, Cardiac conduction abnormality, Tremor, Arrhythmia, Abnormal aut... ORPHA:2131
Nestor-Guillermo Progeria Syndrome
Sinus tachycardia, Mitral regurgitation, Right bundle branch block, Pulmonary arterial hypertensi... OMIM:614008
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Increased circulating ferritin concentration, Diffuse cerebral atrophy, Head titubation, Absent b... ORPHA:3240
Mogs-Cdg
Optic atrophy, Hepatosplenomegaly, Sensorineural hearing impairment, Dystonia, Absent brainstem a... ORPHA:79330
Congenital Sialidosis Type 2
Low-set ears, Optic atrophy, Hearing impairment, Abnormal EKG, Telangiectasia ORPHA:93400
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Failure to thrive, Exa... OMIM:616881
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic fibrosis, Cerebellar atrophy, Failure to thrive, Exocrine pancreatic insufficiency, Hepat... OMIM:616263
Glycogen Storage Disease Due To Acid Maltase Deficiency
Vasculitis, Hearing impairment, Hypertrophic cardiomyopathy, Transient ischemic attack, Shortened... ORPHA:365
Immunodeficiency 87 And Autoimmunity
Dilated cardiomyopathy, Third degree atrioventricular block, Hypokalemia, Pulmonary arterial hype... OMIM:619573
Primary Triglyceride Deposit Cardiomyovasculopathy
Cardiomyopathy, Palpitations, Hyperlipidemia, Sensorineural hearing impairment, Elevated circulat... ORPHA:565612
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206443
Tatton-Brown-Rahman Syndrome
Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw... ORPHA:404443
Pancreatic Agenesis 2
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Diabetes mellitus, Small for gestationa... OMIM:615935
African Trypanosomiasis
Second degree atrioventricular block, Third degree atrioventricular block, Congestive heart failu... ORPHA:3385
Dopamine Beta-Hydroxylase Deficiency
Orthostatic syncope, Abnormal EKG, Vertigo, Elevated circulating creatinine concentration, Syncop... ORPHA:230
Perlman Syndrome
Low-set ears, Hypoglycemia, Large for gestational age, Cryptorchidism, Pancreatic islet-cell hype... OMIM:267000
Tenorio Syndrome
Cerebral cortical atrophy, Hypoinsulinemia, Hypoglycemia OMIM:616260
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Cerebellar atrophy, Hearing impairment, Failure to thrive, C... OMIM:193700
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Hepatomegaly, Type I diabetes mellitus, Reduced pancreatic beta cells, Insulin-resistant diabetes... OMIM:226980
Mitchell-Riley Syndrome
Annular pancreas, Pancreatic hypoplasia, Cholestasis, Hyperglycemia, Hyperbilirubinemia, Absent g... OMIM:615710
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatitis, Diabetes mellitus, Pan... OMIM:167800
Cutis Laxa, Autosomal Recessive, Type Ib
Low-set ears, Tricuspid regurgitation, Pulmonary arterial hypertension, Bradycardia, Pulmonary in... OMIM:614437
Marbach-Rustad Progeroid Syndrome
Pulmonary insufficiency, Right bundle branch block, Intention tremor OMIM:619322
Scimitar Syndrome
Congestive heart failure, Pulmonary arterial hypertension, Left-to-right shunt, Heart block ORPHA:185
Al Amyloidosis
Hypoalbuminemia, Gastrointestinal hemorrhage, Postural hypotension with compensatory tachycardia,... ORPHA:85443
Schwannomatosis, Vestibular
Neurofibroma, Hearing impairment, Bilateral vestibular schwannoma, Peripheral schwannoma, Vertigo... OMIM:101000
Plague
Hypotension, Hearing impairment, Arrhythmia, Hematemesis, Tachycardia ORPHA:707
Charcot-Marie-Tooth Disease Type 1F
Hand tremor, Decreased nerve conduction velocity, Head tremor, Cervical spinal cord atrophy, Sens... ORPHA:101085
Colchicine Poisoning
Hypotension, Cardiogenic shock, Congestive heart failure, Hypomagnesemia, Hypocalcemia, Hypokalem... ORPHA:31824
Cerebrotendinous Xanthomatosis
Optic atrophy, Cholelithiasis, Abnormal auditory evoked potentials, Cerebellar atrophy, Abnormal ... ORPHA:909
Matthew-Wood Syndrome
Low-set ears, Annular pancreas, Failure to thrive, Cryptorchidism, Abnormal spleen morphology, Ap... ORPHA:2470
Tyrosinemia, Type I
Hypermethioninemia, Elevated circulating alpha-fetoprotein concentration, Failure to thrive, Hypo... OMIM:276700
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... ORPHA:276152
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Hypertrophic cardiomyopathy, Tricuspid regurgitation, Wolff-Parkinson-White syndrome OMIM:619705
Andersen Cardiodysrhythmic Periodic Paralysis
Low-set ears, Prominent U wave, Bidirectional ventricular ectopy, Palpitations, Hypokalemia, Sync... OMIM:170390
Scalp-Ear-Nipple Syndrome
Low-set ears, Cupped ear, Congestive heart failure, Underdeveloped tragus, Supraventricular tachy... OMIM:181270
Linear Skin Defects With Multiple Congenital Anomalies 1
Junctional ectopic tachycardia, Arrhythmia, Hearing impairment, Histiocytoid cardiomyopathy OMIM:309801
Igg4-Related Thyroid Disease
Graves disease, Euthyroid goiter, Goiter, Sialadenitis, Hypocalcemia, Sclerosing cholangitis, Has... ORPHA:64744
Aneurysm-Osteoarthritis Syndrome
Aortic regurgitation, Atrial fibrillation, Mitral regurgitation, Pulmonic stenosis ORPHA:284984
Woodhouse-Sakati Syndrome
Hearing impairment, Abnormal T-wave, Hyperlipidemia, Sensorineural hearing impairment, Protruding... OMIM:241080
Degcags Syndrome
Low-set ears, Hearing impairment, Macrotia, Hyperbilirubinemia, Unilateral conductive hearing imp... OMIM:619488
Ogden Syndrome
Low-set ears, Cerebral atrophy, Torsade de pointes, Premature atrial contractions, Recurrent otit... OMIM:300855
Severe Generalized Junctional Epidermolysis Bullosa
Abnormal blood ion concentration, Dilated cardiomyopathy, Bradycardia ORPHA:79404
Seckel Syndrome 10
Insulin resistance, Elevated circulating luteinizing hormone level, Glycosuria, Glucose intoleran... OMIM:617253
Trisomy 10P
Low-set ears, Abnormal auditory evoked potentials, EEG with burst suppression, Absent gallbladder... ORPHA:171929
Tsh-Secreting Pituitary Adenoma
Hypotension, Congestive heart failure, Vertigo, Palpitations, Tremor, Hypokalemia, Supraventricul... ORPHA:91347
Sarcoidosis
Portal hypertension, Arrhythmia, Abnormal cardiac ventricular function, Ventricular tachycardia, ... ORPHA:797
Hypotrichosis And Recurrent Skin Vesicles
Abnormal EKG OMIM:613102
Mend Syndrome
Aortic valve stenosis, Low-set ears, Abnormal auditory evoked potentials, Elevated 8(9)-cholesten... ORPHA:401973
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, EEG abnormality ORPHA:206448
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Low-set ears, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Posteri... OMIM:617506
Aortic Arch Interruption
Aortic regurgitation, Congestive heart failure, Tricuspid regurgitation, Shock, Blood pressure su... ORPHA:2299
Pearson Syndrome
Hearing impairment, Cardiomyopathy, Hypomagnesemia, Hypocalcemia, Cardiac conduction abnormality,... ORPHA:699
Duodenal Atresia
Annular pancreas, Abnormality of the pancreas ORPHA:1203
Renal Cysts And Diabetes Syndrome
Cerebral cortical atrophy, Pancreatic hypoplasia, Glycosuria, Maturity-onset diabetes of the youn... OMIM:137920
Cutis Laxa, Autosomal Recessive, Type Iid
Low-set ears, Congestive heart failure, Hypertrophic cardiomyopathy, Protruding ear, Right bundle... OMIM:617403
Loeys-Dietz Syndrome 3
Aortic regurgitation, Mitral regurgitation, Subarachnoid hemorrhage, Atrial fibrillation, Pulmoni... OMIM:613795
Truncus Arteriosus
Aortic regurgitation, Tachycardia, Pulmonic stenosis, Abnormal heart valve physiology ORPHA:3384
Dermatomyositis
Vasculitis, Sinus tachycardia, Elevated circulating creatine kinase concentration, Arrhythmia, Pu... ORPHA:221
Annular Pancreas
Annular pancreas ORPHA:675
Pancreas, Annular
Annular pancreas OMIM:167750
Idiopathic Hypereosinophilic Syndrome
Dilated cardiomyopathy, Pulmonary embolism, Congestive heart failure, Transient ischemic attack, ... ORPHA:3260
Tuberous Sclerosis 2
Hearing impairment, Wolff-Parkinson-White syndrome OMIM:613254
Heterotaxy, Visceral, 5, Autosomal
Cerebellar atrophy, Cerebral atrophy, Atrial reentry tachycardia OMIM:270100
Friedreich Ataxia 2
Congestive heart failure, Abnormality of peripheral nerve conduction, Abnormal EKG, Concentric hy... OMIM:601992
Cardiac-Urogenital Syndrome
Tachycardia OMIM:618280
Full Nf2-Related Schwannomatosis
Bilateral vestibular schwannoma, Peripheral schwannoma, Neuroma, Vestibular schwannoma, Sensorine... ORPHA:637
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Aortic valve stenosis, Conductive hearing impairment, Cardiac conduction abnormality, Otitis medi... ORPHA:353281
Marfan Syndrome
Aortic regurgitation, Congestive heart failure, Mitral regurgitation, Ventricular tachycardia, Ab... ORPHA:558
Beckwith-Wiedemann Syndrome
Otosclerosis, Hearing impairment, Abnormal earlobe morphology, Abnormal pancreas morphology, Exoc... ORPHA:116
Simpson-Golabi-Behmel Syndrome
Abnormal helix morphology, Cardiomyopathy, Bundle branch block, Low-set, posteriorly rotated ears... ORPHA:373
Marshall-Smith Syndrome
Low-set ears, Bilateral conductive hearing impairment, Hearing impairment, Cerebral atrophy, Chol... OMIM:602535
Greenberg Dysplasia
Low-set ears, Hepatosplenomegaly, Pancreatic islet-cell hyperplasia, Hepatic calcification, Hepat... OMIM:215140
Smith-Lemli-Opitz Syndrome
Low-set ears, Hypoalbuminemia, Global brain atrophy, Cerebellar atrophy, Hearing impairment, Hype... OMIM:270400
Cutis Laxa, Autosomal Recessive, Type Iic
Aortic regurgitation, Low-set ears, Tricuspid regurgitation, Right bundle branch block OMIM:617402
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Abnormality of the submandibu... ORPHA:449432
Congenital Total Pulmonary Venous Return Anomaly
Right ventricular failure, Tricuspid regurgitation, Mitral regurgitation, Pulmonary arterial hype... ORPHA:99125
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Aortic valve stenosis, Low-set ears, Conductive hearing impairment, Cardiac conduction abnormalit... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Aortic valve stenosis, Low-set ears, Conductive hearing impairment, Cardiac conduction abnormalit... ORPHA:353277
Simpson-Golabi-Behmel Syndrome, Type 1
Hearing impairment, Polysplenia, Supernumerary nipple, Anterior creases of earlobe, Cryptorchidis... OMIM:312870

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Cacna1d

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Cacna1d.

No publications found that use IMPC mice or data for Cacna1d.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Cacna1dtm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Cacna1dtm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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