Not currently registered for phenotyping at IMPC

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

Gene Summary

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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Cacna1d mutations

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

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

The table below shows human diseases associated to Cacna1d by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Sinoatrial Node Dysfunction And Deafness
Bradycardia, Hearing impairment OMIM:614896
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypertension, Intracranial hemorrhage, Hypokalemia, Pulmonary arterial hypertension, Epistaxis, T... ORPHA:369929
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypertension, Decreased circulating renin level, Pulmonary arterial hypertension, Hypokalemia OMIM:615474

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Sinoatrial Node Dysfunction And Deafness
Bradycardia, Hearing impairment OMIM:614896
Romano-Ward Syndrome
Syncope, Sinus bradycardia, Abnormal T-wave, Ventricular arrhythmia, Hypokalemia, Torsade de poin... ORPHA:101016
Progressive Familial Heart Block, Type Ii
Syncope, Sinus bradycardia, Atrioventricular block, Complete heart block with narrow QRS complexe... OMIM:140400
Auditory Neuropathy, Autosomal Dominant, 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Deafness, Autosomal Dominant 9
Cochlear degeneration, Vertigo, Tinnitus, Postlingual sensorineural hearing impairment, Abnormali... OMIM:601369
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... OMIM:616117
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Third degree atrioventricular block, Sinus bradycardia, Atrial fibrillati... OMIM:115200
Sick Sinus Syndrome 4
Syncope, Abnormal QRS complex, Sinus bradycardia, Abnormal PR interval, Atrioventricular block, A... OMIM:619464
Long Qt Syndrome 13
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... OMIM:613485
Cardiomyopathy, Familial Hypertrophic, 6
Hypertrophic cardiomyopathy, Sinus bradycardia, Atrial fibrillation, Ventricular preexcitation, A... OMIM:600858
Long Qt Syndrome 14
T-wave alternans, Sinus bradycardia, Prolonged QT interval, Atrioventricular block, Prolonged QTc... OMIM:616247
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Dilated cardiomyopathy, Syncope, Atrial standstill, Ventricular tachycardia, Atrioventricular blo... OMIM:604772
Atrial Standstill 1
Atrial standstill, Ventricular escape rhythm, Atrial cardiomyopathy, First degree atrioventricula... OMIM:108770
Cardiac Arrhythmia, Ankyrin-B-Related
Syncope, Sinus bradycardia, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Cardiomyopathy, Dilated, 1E
Dilated cardiomyopathy, Syncope, Premature ventricular contraction, Atrial standstill, Atrial fib... OMIM:601154
Familial Progressive Cardiac Conduction Defect
Syncope, Vertigo, Heart block, Bundle branch block, Congestive heart failure, Arrhythmia ORPHA:871
Nathalie Syndrome
Sensorineural hearing impairment, Arrhythmia ORPHA:2663
Brugada Syndrome 2
Syncope, Right bundle branch block, First degree atrioventricular block, Ventricular fibrillation... OMIM:611777
Sick Sinus Syndrome 1
Sinus bradycardia, Prolonged QT interval, Ventricular escape rhythm, Atrioventricular block, Abse... OMIM:608567
Congenital Heart Defects, Multiple Types, 3
Atrial fibrillation, Atrioventricular dissociation, Atrioventricular block, Tachycardia, Right bu... OMIM:614954
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Abnormal atrioventricular conduction, Abnormal electrophysiology of sinoa... ORPHA:168796
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Vestibular Schwannoma OMIM:613641
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617182
Myopathy, Myofibrillar, 1
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Restric... OMIM:601419
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Hypsarrhythmia, Bradycardia, Prolonged PR interval, Sick sinus syndrom... ORPHA:542306
Progressive Familial Heart Block, Type Ia
Syncope, Complete heart block with broad QRS complexes, Left anterior fascicular block, Right bun... OMIM:113900
Deafness-Oligodontia Syndrome
Sensorineural hearing impairment, Abnormality of the inner ear, Vertigo ORPHA:3230
Atrial Fibrillation, Familial, 18
Palpitations, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Bradycardia OMIM:617280
Long Qt Syndrome 10
T-wave alternans, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Sudden card... OMIM:611819
Cardiomyopathy, Dilated, 1G
Dilated cardiomyopathy, Reduced ejection fraction, Atrial fibrillation, Ventricular tachycardia, ... OMIM:604145
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Syncope, Sinus bradycardia, Palpitations, Atrioventricular block, Elevated circulating creatine k... OMIM:616812
Cardiac Conduction Defect
Syncope, Arrhythmia OMIM:115080
Brugada Syndrome 1
Syncope, Atrial fibrillation, Supraventricular tachycardia with an accessory connection mediated ... OMIM:601144
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Cardiomyopathy, Familial Hypertrophic, 28
Concentric hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Reduced eje... OMIM:619402
Brugada Syndrome
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... ORPHA:130
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Atrial fibrillation, Atrioventricular block, Supraventricular tachycardia... OMIM:612158
Atrial Septal Defect, Sinus Venosus Type
Left-to-right shunt, Atrial fibrillation, Systolic heart murmur, Cardiac conduction abnormality, ... ORPHA:99105
His Bundle Tachycardia
Cardiomyopathy, Arrhythmia, Junctional ectopic tachycardia ORPHA:3283
Hydroxykynureninuria
Hypotension, Tachycardia, Hearing impairment OMIM:236800
Chronic Atrial And Intestinal Dysrhythmia
Atrial fibrillation, Mitral regurgitation, Bradycardia, Pulmonic stenosis, Atrial flutter, Sick s... OMIM:616201
Long Qt Syndrome 9
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia OMIM:611818
Intellectual Developmental Disorder With Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617173
Atrial Fibrillation, Familial, 7
Palpitations, Paroxysmal atrial fibrillation, Prolonged QTc interval, Prolonged PR interval OMIM:612240
Atrial Fibrillation, Familial, 4
Atrial fibrillation, Palpitations, Permanent atrial fibrillation, Premature atrial contractions, ... OMIM:611493
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Ventricular tachycardia, Syncope, Cardiac arrest, Vertigo OMIM:614916
Worster-Drought Syndrome
Sensorineural hearing impairment, Abnormal cranial nerve morphology ORPHA:3465
Atrial Standstill
Syncope, Abnormal P wave, Atrial standstill, Reduced ejection fraction, Ventricular escape rhythm... ORPHA:1344
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Sudden cardiac death, Atrioventricular block, Elevated circulating creatine kinase concentration,... OMIM:310300
Familial Dilated Cardiomyopathy
Abnormal circulating creatine kinase concentration, Reduced ejection fraction, Atrial fibrillatio... ORPHA:217607
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Right ventricular cardiomyopathy, T-wave inversion in the right precordial leads, Ventricular arr... OMIM:602087
3-Methylglutaconic Aciduria, Type Viii
Sensorineural hearing impairment, Tremor, Bradycardia, Cerebral atrophy OMIM:617248
Sick Sinus Syndrome 2
Sinus bradycardia, Atrial fibrillation, Aortic regurgitation, Cardiac arrest, Sick sinus syndrome... OMIM:163800
Jervell And Lange-Nielsen Syndrome 2
Syncope, Prolonged QT interval, Congenital sensorineural hearing impairment, Torsade de pointes, ... OMIM:612347
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Arrhythmia, Bradycardia, Atrial fibrillation OMIM:614302
Aapoaiv Amyloidosis
Abnormal cardiac ventricular function, Hypertension, Hypertrophic cardiomyopathy, Sinus bradycard... ORPHA:439232
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Large fo... OMIM:256450
Catecholaminergic Polymorphic Ventricular Tachycardia
Sudden cardiac death, Syncope, Ventricular tachycardia, Vertigo ORPHA:3286
Deafness, Autosomal Recessive 2
Sensorineural hearing impairment, Vestibular dysfunction, Vertigo OMIM:600060
Jervell And Lange-Nielsen Syndrome 1
Syncope, Prolonged QT interval, Congenital sensorineural hearing impairment, Torsade de pointes, ... OMIM:220400
Kearns-Sayre Syndrome
Third degree atrioventricular block, Hearing impairment ORPHA:480
Familial Short Qt Syndrome
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, Palpitations, Atriov... ORPHA:51083
Atrial Fibrillation, Familial, 1
Tachycardia, Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 3
Tachycardia, Atrial fibrillation OMIM:607554
Cardiomyopathy, Familial Hypertrophic, 13
Hypertrophic cardiomyopathy, Syncope, Atrial fibrillation, ST segment depression, Left anterior f... OMIM:613243
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Macrotia, Bradycardia, Simplified gyral pattern, Intention tremor, Promin... OMIM:614407
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Ventricular tachycardia, Syncope, Bradycardia OMIM:611938
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Attrv30M Amyloidosis
Atrioventricular block, Arrhythmia, Cardiomyopathy, Abnormal autonomic nervous system physiology ORPHA:85447
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Sensorineural hearing impairment, Optic atrophy OMIM:136600
Wolff-Parkinson-White Syndrome
Syncope, Ventricular preexcitation, Palpitations, Ventricular preexcitation with multiple accesso... OMIM:194200
Atrial Fibrillation, Familial, 14
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation OMIM:615378
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Syncope, Ventricular arrhythmia, Palpitations, Sudden cardiac death, Right ventricular cardiomyop... OMIM:610476
Long Qt Syndrome 16
T-wave alternans, Prolonged QTc interval, Bradycardia, Second degree atrioventricular block OMIM:618782
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Right ventricular cardiomyopathy, T-wave inversion in the right precordial leads, Ventricular arr... OMIM:602086
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestati... OMIM:601820
Progressive Familial Heart Block, Type Ib
Syncope, Prolonged QT interval, Atrioventricular block, Left anterior fascicular block, Bradycard... OMIM:604559
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Dilated cardiomyopathy, Syncope, Atrial fibrillation, Ventricular arrhythmia, Cardiac conduction ... ORPHA:300751
Cardiomyopathy, Dilated, 1J
Dilated cardiomyopathy, Sensorineural hearing impairment, Congestive heart failure, Sudden cardia... OMIM:605362
Cardiomyopathy, Familial Hypertrophic, 16
Ventricular tachycardia, Asymmetric septal hypertrophy, Atrial fibrillation, Left bundle branch b... OMIM:613838
Desminopathy
Concentric hypertrophic cardiomyopathy, Atrioventricular block, Congestive heart failure, Sudden ... ORPHA:98909
Deafness, Autosomal Dominant 81
Sensorineural hearing impairment, Vestibular dysfunction OMIM:619500
Deafness, Autosomal Recessive 110
Sensorineural hearing impairment, Vestibular dysfunction OMIM:618094
Deafness, Autosomal Recessive 1A
Sensorineural hearing impairment, Vestibular dysfunction OMIM:220290
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Sudden cardiac death, Right ventricular cardiomyopathy, Ventricular arrhythmia OMIM:107970
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Atrial fibrillation, Mitral regurgitation, Ventric... OMIM:604169
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Incessant Infant Ventricular Tachycardia
Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supraventricular tachycard... ORPHA:45453
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Small for gestational age, Hyperglycemia, Diabetic ketoacidosis, Maturity-onse... ORPHA:99886
Deafness, Mid-Tone Neural
Sensorineural hearing impairment, Progressive hearing impairment OMIM:124700
Deafness, Autosomal Dominant 49
Sensorineural hearing impairment, Progressive hearing impairment OMIM:608372
Deafness, X-Linked 4
Sensorineural hearing impairment, High-frequency hearing impairment OMIM:300066
Cardiomyopathy, Familial Hypertrophic, 7
Cardiomyopathy, Atrial fibrillation OMIM:613690
Deafness, Autosomal Recessive 29
Sensorineural hearing impairment, Hearing impairment OMIM:614035
Deafness, Autosomal Recessive 57
Sensorineural hearing impairment, Hearing impairment OMIM:618003
Deafness, Autosomal Recessive 20
Sensorineural hearing impairment, Hearing impairment OMIM:604060
Deafness, Autosomal Recessive 13
Sensorineural hearing impairment, Hearing impairment OMIM:603098
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Sensorineural hearing impairment, Hypoproteinemia, Tachycardia OMIM:221400
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia, Diffuse cerebral atrophy ORPHA:2898
Atrial Septal Defect, Ostium Primum Type
Syncope, Abnormal P wave, Atrial fibrillation, Mitral regurgitation, Systolic heart murmur, Palpi... ORPHA:99106
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia, Simplified gyral pattern, EEG a... OMIM:618815
Charcot-Marie-Tooth Disease, X-Linked Recessive, 4, With Or Without Cerebellar Ataxia
Sensorineural hearing impairment, Sensory axonal neuropathy, Motor axonal neuropathy, Hearing imp... OMIM:310490
Cardiomyopathy, Familial Hypertrophic, 18
Cardiomyopathy, Atrial fibrillation OMIM:613874
Atrioventricular Dissociation
Congenital atrioventricular dissociation OMIM:209600
Cardiomyopathy, Familial Hypertrophic, 26
Congestive heart failure, Atrial fibrillation, Mitral regurgitation OMIM:617047
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz... OMIM:610021
Deafness, Autosomal Recessive 37
Sensorineural hearing impairment, Vestibular dysfunction, Bilateral sensorineural hearing impairment OMIM:607821
Cardiomyopathy, Familial Hypertrophic, 10
Hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Ventricular tachycardi... OMIM:608758
Tako-Tsubo Cardiomyopathy
Syncope, Ventricular arrhythmia, Mildly reduced ejection fraction, ST segment depression, Low-out... ORPHA:66529
Cardiomyopathy, Familial Hypertrophic, 12
Ventricular tachycardia, Paroxysmal atrial fibrillation, Cardiomyopathy, Sudden cardiac death OMIM:612124
Variegate Porphyria
Tachycardia OMIM:176200
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Cardiomyopathy, Supraventricular arrhythmia ORPHA:320360
Myotonic Dystrophy 1
Atrial fibrillation, Facial diplegia, Atrial flutter, Cerebral atrophy, First degree atrioventric... OMIM:160900
Nathalie Syndrome
Abnormal EKG, Hearing impairment OMIM:255990
Trimethylaminuria
Hypertension, Tachycardia OMIM:602079
Deafness, Autosomal Recessive 15
Sensorineural hearing impairment, Prelingual sensorineural hearing impairment OMIM:601869
Deafness, Autosomal Recessive 79
Sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:613307
Deafness, Autosomal Dominant 22
Sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:606346
Deafness, Sensorineural, Autosomal-Mitochondrial Type
Sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:221745
Deafness, Autosomal Recessive 67
Sensorineural hearing impairment, Bilateral sensorineural hearing impairment OMIM:610265
Coenzyme Q10 Deficiency, Primary, 5
Cerebellar atrophy, Cerebral atrophy, Bradycardia, Hyperalaninemia OMIM:614654
Cardiomyopathy, Dilated, 1Kk
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Atrial fibrillation, Mitral regurgitation, C... OMIM:615248
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Elevated cir... ORPHA:171706
Short Qt Syndrome 2
Syncope, Shortened QT interval, Atrial fibrillation, Bradycardia, Sudden cardiac death, Ventricul... OMIM:609621
Atrial Fibrillation, Familial, 15
Atrial flutter, Atrial fibrillation OMIM:615770
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Syncope, Ventricular arrhythmia, Ventricular tachycardia, Right ventricular cardiomyopathy, Prolo... OMIM:611528
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Abnormal left ventricular function, Cardiomyopathy, Heart block ORPHA:98912
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Congestive heart failure, Atrial fibrillation OMIM:601494
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Increased hepatic glycogen content, Truncal obesity, Neonatal hypoglyce... ORPHA:293964
Wolfram-Like Syndrome, Autosomal Dominant
Optic atrophy, Glucose intolerance, Impaired glucose tolerance, Hearing impairment, Diabetes mell... OMIM:614296
Cardiomyopathy, Dilated, 2B
Dilated cardiomyopathy, Congestive heart failure, Atrial fibrillation OMIM:614672
Atrial Fibrillation, Familial, 10
Paroxysmal atrial fibrillation, Atrial flutter, Paroxysmal atrial tachycardia, Tricuspid regurgit... OMIM:614022
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Arrhythmia OMIM:212500
Lipoyltransferase 1 Deficiency
Cerebellar atrophy, Pulmonary arterial hypertension, Bradycardia, Increased total bilirubin OMIM:616299
Brugada Syndrome 3
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, J wave, Sudden cardi... OMIM:611875
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Paroxysmal ventricular tachycardia, Syncope, Premature ventricular contraction, Prolonged QT inte... OMIM:614021
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Decreased plasma free carnitine, Bradycardia, Hyperalaninemia, Brain atrophy, Congestive heart fa... OMIM:619048
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Elevated circulating creatine kinase concentration, Supraventricular tachycardia, Cardiomyopathy OMIM:255100
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Prolonged PR interval, Atrial fibrillation OMIM:108900
Idiopathic Neonatal Atrial Flutter
Abnormal QRS complex, Reduced ejection fraction, Supraventricular tachycardia, Abnormal atriovent... ORPHA:45452
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Arrhythmia ORPHA:3193
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Bradycardia OMIM:616276
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Presyncope, Congestive ... OMIM:604400
Acute Peripheral Arterial Occlusion
Absent ankle pulse, Supraventricular tachycardia, Myocardial infarction, Abnormality of venous ph... ORPHA:90064
Cardiomyopathy, Familial Hypertrophic, 20
Atrial fibrillation, Cardiomyopathy OMIM:613876
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Optic atrophy, Neuronal loss in central nervous system, Bradycardia, Abnormal autonomic nervous s... OMIM:614498
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Reduced ejection fraction, Angina pectoris, Restrictive cardiomyopat... ORPHA:85451
Collagenoma, Familial Cutaneous
Atrial fibrillation, Cardiomyopathy, Tricuspid regurgitation, Sensorineural hearing impairment, V... OMIM:115250
Jervell And Lange-Nielsen Syndrome
Syncope, Torsade de pointes, Prolonged QTc interval, Bilateral sensorineural hearing impairment, ... ORPHA:90647
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Syncope, Atrioventricular block, Left bundle branch block, Transient... OMIM:115197
Cardiomyopathy, Familial Hypertrophic, 11
Hypertrophic cardiomyopathy, Arrhythmia OMIM:612098
Leber Hereditary Optic Neuropathy
Postural tremor, Optic atrophy, Ventricular preexcitation, Retinal telangiectasia, Arrhythmia ORPHA:104
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Diabetes mellitus, Insulin resistance OMIM:612227
Non-Functioning Paraganglioma
Cerebral hemorrhage, Conductive hearing impairment, Paroxysmal vertigo, Hypercalcemia, Palpitatio... ORPHA:94080
Carnitine-Acylcarnitine Translocase Deficiency
Premature ventricular contraction, Ventricular tachycardia, Atrioventricular block, Elevated circ... OMIM:212138
Atrial Fibrillation, Familial, 13
Paroxysmal atrial fibrillation, Aortic valve stenosis OMIM:615377
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia OMIM:126320
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Orthostatic hypotension, Atrioventricular block, Decreased nerve conduction velocity, Abnormal at... OMIM:118301
Long Qt Syndrome 15
Prolonged QT interval, Prolonged QTc interval, Bradycardia, Cardiac arrest, Ventricular fibrillation OMIM:616249
Ataxia, Deafness, And Cardiomyopathy
Sensorineural hearing impairment, Cardiomyopathy OMIM:208750
Short Qt Syndrome 1
Syncope, Shortened QT interval, Palpitations, Cardiac arrest, Sudden cardiac death, Paroxysmal at... OMIM:609620
Cardiomyopathy, Dilated, 1P
Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure, Ventricular arrhythmia OMIM:609909
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Bradycardia, Bilateral sensorineural hearing impairment, Mic... ORPHA:40366
Deafness, Autosomal Dominant 69
Sensorineural hearing impairment OMIM:616697
Deafness, Autosomal Recessive 17
Sensorineural hearing impairment OMIM:603010
Deafness, Autosomal Recessive 8
Sensorineural hearing impairment OMIM:601072
Deafness, Autosomal Recessive 26
Sensorineural hearing impairment OMIM:605428
Deafness, Autosomal Dominant 48
Sensorineural hearing impairment OMIM:607841
Deafness, Autosomal Recessive 113
Sensorineural hearing impairment OMIM:618410
Deafness, Autosomal Dominant 40
Sensorineural hearing impairment OMIM:616357
Deafness, Autosomal Dominant 37
Sensorineural hearing impairment OMIM:618533
Deafness, Autosomal Dominant 75
Sensorineural hearing impairment OMIM:618778
Neuropathy, Hereditary Motor And Sensory, With Deafness, Mental Retardation, And Absent Sensory Large Myelinated Fibers
Sensorineural hearing impairment OMIM:214370
Deafness, Autosomal Recessive 100
Sensorineural hearing impairment OMIM:618422
Deafness, Autosomal Dominant 76
Sensorineural hearing impairment OMIM:618787
Deafness, Autosomal Recessive 14
Sensorineural hearing impairment OMIM:603678
Deafness, Autosomal Recessive 114
Sensorineural hearing impairment OMIM:618456
Deafness, Autosomal Recessive 115
Sensorineural hearing impairment OMIM:618457
Deafness, Autosomal Recessive 99
Sensorineural hearing impairment OMIM:618481
Deafness, Autosomal Recessive 27
Sensorineural hearing impairment OMIM:605818
Deafness, Autosomal Recessive 68
Sensorineural hearing impairment OMIM:610419
Deafness, Autosomal Recessive 21
Sensorineural hearing impairment OMIM:603629
Deafness, Y-Linked 2
Sensorineural hearing impairment OMIM:400047
Deafness, Autosomal Dominant 10
Sensorineural hearing impairment OMIM:601316
Deafness, Autosomal Dominant 3A
Sensorineural hearing impairment OMIM:601544
Deafness, Autosomal Dominant 12
Sensorineural hearing impairment OMIM:601543
Deafness, Autosomal Recessive 16
Sensorineural hearing impairment OMIM:603720
Deafness, Autosomal Recessive 31
Sensorineural hearing impairment OMIM:607084
Deafness, Autosomal Recessive 66
Sensorineural hearing impairment OMIM:610212
Deafness, Autosomal Recessive 5
Sensorineural hearing impairment OMIM:600792
Deafness, Autosomal Recessive 59
Sensorineural hearing impairment OMIM:610220
Deafness, Autosomal Recessive 61
Sensorineural hearing impairment OMIM:613865
Deafness, Autosomal Dominant 13
Sensorineural hearing impairment OMIM:601868
Deafness, Autosomal Recessive 117
Sensorineural hearing impairment OMIM:619174
Deafness, Autosomal Recessive 22
Sensorineural hearing impairment OMIM:607039
Deafness, Autosomal Dominant 27
Sensorineural hearing impairment OMIM:612431
Deafness, Autosomal Recessive 98
Sensorineural hearing impairment OMIM:614861
Deafness, Autosomal Dominant 21
Sensorineural hearing impairment OMIM:607017
Deafness, Autosomal Recessive 116
Sensorineural hearing impairment OMIM:619093
Deafness, Autosomal Recessive 7
Sensorineural hearing impairment OMIM:600974
Deafness, Autosomal Dominant 68
Sensorineural hearing impairment OMIM:616707
Deafness, Autosomal Recessive 97
Sensorineural hearing impairment OMIM:616705
Deafness, Autosomal Recessive 35
Sensorineural hearing impairment OMIM:608565
Deafness, Autosomal Recessive 23
Sensorineural hearing impairment OMIM:609533
Deafness, Autosomal Dominant 59
Sensorineural hearing impairment OMIM:612642
Deafness, Autosomal Recessive 42
Sensorineural hearing impairment OMIM:609646
Mental Retardation, X-Linked 46
Sensorineural hearing impairment OMIM:300436
Deafness, Autosomal Dominant 66
Sensorineural hearing impairment OMIM:616969
Deafness, Autosomal Dominant 44
Sensorineural hearing impairment OMIM:607453
Deafness, Autosomal Dominant 77
Sensorineural hearing impairment OMIM:618915
Deafness, Autosomal Dominant 47
Sensorineural hearing impairment OMIM:608652
Deafness, Autosomal Dominant 71
Sensorineural hearing impairment OMIM:617605
Deafness, Autosomal Dominant 28
Sensorineural hearing impairment OMIM:608641
Deafness, Neural, Congenital Moderate
Sensorineural hearing impairment OMIM:221500
Deafness, Autosomal Dominant 53
Sensorineural hearing impairment OMIM:609965
Deafness, Autosomal Dominant 30
Sensorineural hearing impairment OMIM:606451
Deafness, Autosomal Recessive 18A
Sensorineural hearing impairment OMIM:602092
Deafness, Autosomal Recessive 53
Sensorineural hearing impairment OMIM:609706
Deafness, Autosomal Dominant 25
Sensorineural hearing impairment OMIM:605583
Deafness, Autosomal Recessive 51
Sensorineural hearing impairment OMIM:609941
Deafness, X-Linked 1
Sensorineural hearing impairment OMIM:304500
Atrial Fibrillation, Familial, 12
Paroxysmal atrial fibrillation OMIM:614050
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation OMIM:613980
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Arrhythmia, Bundle branch block ORPHA:1479
Atrial Fibrillation, Familial, 11
Atrial fibrillation OMIM:614049
Atrial Fibrillation, Familial, 6
Atrial fibrillation OMIM:612201
Atrial Fibrillation, Familial, 5
Atrial fibrillation OMIM:611494
Abnormal Hair, Joint Laxity, And Developmental Delay
Sinus bradycardia, Tricuspid regurgitation, Mitral regurgitation, Recurrent otitis media OMIM:261990
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Progressive hearing impairment, Cardiomyopathy, Bradycardia, Cerebral atrophy, Arrhythmia OMIM:609286
Hemochromatosis Type 2
Abnormality of endocrine pancreas physiology, Abnormality of iron homeostasis, Congenital hepatic... ORPHA:79230
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Mitral regurgitation, Sensorineural hearing i... OMIM:616648
Atrophoderma Vermiculata
Heart block ORPHA:79100
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment OMIM:600501
Ventricular Fibrillation, Paroxysmal Familial, 1
Syncope, Tachycardia, Ventricular fibrillation OMIM:603829
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Hypertension, Aganglionic megacolon, Posteriorly rotated ears, Tachycardia, Cupped ear, Abnormal ... OMIM:613870
Congenital Heart Defects, Multiple Types, 5
Dilated cardiomyopathy, Aortic valve stenosis, Atrial fibrillation OMIM:617912
Sudden Cardiac Failure, Infantile
Hypertrophic cardiomyopathy, Congestive heart failure, Bradycardia, Myocarditis OMIM:617222
Ventricular Tachycardia, Familial
Paroxysmal ventricular tachycardia, Sudden cardiac death, Right bundle branch block OMIM:192605
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Left bundle branch bloc... OMIM:618920
Coproporphyria, Hereditary
Hypertension, Tachycardia OMIM:121300
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Progressive hearing impairment, Low-frequency hearing loss, Sensorineural hearing impairment OMIM:124900
Cardiomyopathy, Dilated, 1B
Dilated cardiomyopathy, Impaired myocardial contractility, Congestive heart failure, Ventricular ... OMIM:600884
Tetanus
Hypertension, Opisthotonus, Elevated circulating creatine kinase concentration, Bradycardia, Tach... ORPHA:3299
Mody
Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperg... ORPHA:552
Congenital Heart Defects, Multiple Types, 2
Aortic regurgitation, Aortic valve stenosis, Atrial fibrillation, Left ventricular outflow tract ... OMIM:614980
Atrial Septal Defect, Ostium Secundum Type
Right ventricular failure, Syncope, Left-to-right shunt, Atrial fibrillation, Mitral regurgitatio... ORPHA:99103
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-c... ORPHA:276608
Glycogen Storage Disease Xv
Ventricular arrhythmia, Right bundle branch block OMIM:613507
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, Ventricular tachycardia, Vertigo, Cardiomyopathy, Right bundle branch block, ST seg... ORPHA:263297
Kearns-Sayre Syndrome
Sensorineural hearing impairment, Cardiomyopathy, Third degree atrioventricular block, Arrhythmia OMIM:530000
Hydroxykynureninuria
Congenital sensorineural hearing impairment, Tachycardia, Abnormal circulating tryptophan concent... ORPHA:79155
Familial Thyroid Dyshormonogenesis
Sensorineural hearing impairment, Abnormal circulating thyroglobulin level, Bradycardia, Neonatal... ORPHA:95716
Atrial Tachyarrhythmia With Short Pr Interval
Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Sho... OMIM:108950
Paragangliomas 3
Palpitations, Pulsatile tinnitus, Hypertension associated with pheochromocytoma, Tachycardia OMIM:605373
Hyperinsulinism Due To Ucp2 Deficiency
Hypertrophic cardiomyopathy, Syncope, Palpitations, Tachycardia, Decreased circulating free fatty... ORPHA:276556
Atrial Standstill 2
Atrial standstill, Palpitations, Cardiomyopathy, Bradycardia, Atrial cardiomyopathy, Absent P wav... OMIM:615745
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Ebstein Anomaly
Atrial standstill, Atrial fibrillation, Ventricular preexcitation, Right bundle branch block, Sud... OMIM:224700
Wild Type Attr Amyloidosis
Hypertrophic cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Bradycardia, M... ORPHA:330001
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Premature ventricular contraction, Syncope, Shock, Prolonged QT interval, Polymorphic ventricular... OMIM:615441
Mahvash Disease
Pancreatic alpha-cell hyperplasia, Type II diabetes mellitus, Vertigo, Recurrent pancreatitis, In... OMIM:619290
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Premature ventricular contraction, Heart block ORPHA:1964
Paragangliomas 1
Conductive hearing impairment, Palpitations, Pulsatile tinnitus, Tachycardia, Hypertension associ... OMIM:168000
Neonatal Lupus Erythematosus
Dilated cardiomyopathy, Prolonged QT interval, Atrioventricular block, Heart block, Abnormal elec... ORPHA:398124
Cardiomyopathy, Dilated, 1O
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia OMIM:608569
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Ventricular escape rhythm, Increased LDL cholesterol concentration, Atrio... ORPHA:98855
Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type
Atrioventricular block, Abnormal atrioventricular conduction OMIM:118230
Sinus Node Disease And Myopia
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin OMIM:182190
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Episodic hyperhidrosis, Focal pancr... ORPHA:276575
Timothy Syndrome
Prolonged QT interval, Bradycardia, Hypocalcemia OMIM:601005
Gitelman Syndrome
Prominent U wave, Syncope, Abnormal T-wave, Prolonged QT interval, Hypokalemia, Palpitations, ST ... ORPHA:358
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Paroxysmal atrial tachycardia, Sensorineural hearing impairment, Cardiac arrest, C... ORPHA:49827
Brugada Syndrome 4
Syncope, Shortened QT interval, Atrial fibrillation OMIM:611876
Lyme Disease
Atrioventricular block, Arrhythmia ORPHA:91546
Idiopathic Congenital Hypothyroidism
Bradycardia, Neonatal hyperbilirubinemia ORPHA:95717
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Episodic hyperhi... ORPHA:276580
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Hand tremor, ... ORPHA:79299
Insulinoma
Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Hyperinsulinemic hypoglycemia, Increased ... ORPHA:97279
Aortic Aneurysm, Familial Thoracic 9
Atrial fibrillation OMIM:616166
Heart-Hand Syndrome, Spanish Type
Sick sinus syndrome OMIM:140450
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hypoproteinemia, Prolonged QT interval, Ventricular tachycardia, Atrioven... ORPHA:26793
Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ventricular escape rhythm, Increased LDL cho... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ventricular escape rhythm, Increased LDL cho... ORPHA:98853
Acquired Methemoglobinemia
Syncope, Palpitations, Vertigo, Tachycardia, Arrhythmia ORPHA:464453
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Methanol Poisoning
Cerebral hemorrhage, Hypertension, Intracranial hemorrhage, Hyperlipidemia, Permanent atrial fibr... ORPHA:31825
Illum Syndrome
Calcinosis, Bradycardia OMIM:208155
Hereditary Coproporphyria
Long hairs growing from helix of pinna, Hyponatremia, Tachycardia, Abnormal circulating porphyrin... ORPHA:79273
Naxos Disease
Paroxysmal ventricular tachycardia, Vertigo, Cardiomyopathy, Congestive heart failure, Sudden car... ORPHA:34217
Muscular Dystrophy, Becker Type
Elevated circulating creatine kinase concentration, Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Glutamine Deficiency, Congenital
Bradycardia, Hyperammonemia, Brain atrophy, Hypoglutaminemia, Low-set ears OMIM:610015
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular arrhythmia OMIM:601493
X-Linked Emery-Dreifuss Muscular Dystrophy
Hypertrophic cardiomyopathy, Ventricular escape rhythm, Increased LDL cholesterol concentration, ... ORPHA:98863
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Sudden cardiac death, R... OMIM:610193
Hyperleucine-Isoleucinemia
Sensorineural hearing impairment, Failure to thrive OMIM:238340
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Premature ventricular contraction, Syncope, Tachycardia OMIM:192445
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Premature ventricular contraction, Ventricular tachycardia, Congestive heart failure, Sudden card... OMIM:607450
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Sensorineural hearing impairment, Unilateral vestibular Schwannoma OMIM:603641
Complete Atrioventricular Septal Defect
Right ventricular failure, Left-to-right shunt, Abnormal P wave, Systolic heart murmur, Atriovent... ORPHA:1329
Hyperinsulinism Due To Hnf1A Deficiency
Syncope, Palpitations, Tachycardia, Decreased circulating free fatty acid level, Increased C-pept... ORPHA:324575
Familial Isolated Restrictive Cardiomyopathy
Hypertrophic cardiomyopathy, Syncope, Atrial fibrillation, Mitral regurgitation, Tricuspid regurg... ORPHA:75249
Ebstein Malformation Of The Tricuspid Valve
Atrial fibrillation, Cerebral ischemia, Congestive heart failure, Right bundle branch block, Sudd... ORPHA:1880
Histiocytoid Cardiomyopathy
Optic atrophy, Atrial fibrillation, Ventricular tachycardia, Atrioventricular block, Supraventric... ORPHA:137675
Non-Syndromic Genetic Deafness
Conductive hearing impairment, Moderate hearing impairment, High-frequency hearing impairment, Ch... ORPHA:87884
Tropical Endomyocardial Fibrosis
Abnormal EKG, Abnormal P wave, Reduced ejection fraction, Mitral regurgitation, Decreased QRS vol... ORPHA:75565
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypertension, Intracranial hemorrhage, Hypokalemia, Pulmonary arterial hypertension, Epistaxis, T... ORPHA:369929
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Hypertension, Myocarditis, Abnormal T-wave, Re... ORPHA:563
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Ventricular tachycardia, Cardiomyopathy OMIM:613873
Glossopharyngeal Neuralgia
Syncope, Cranial nerve compression, Abnormal glossopharyngeal nerve morphology, Bradycardia, Ear ... ORPHA:221098
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Elevated circulating creatine kinase concentration, Tachycardia, Hyperphosphatemia,... OMIM:145600
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, Bundle branch block OMIM:615616
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration, Arrhythmia, EEG abnormality ORPHA:1314
Heart-Hand Syndrome Type 3
Sick sinus syndrome, Bundle branch block ORPHA:1342
Familial Idiopathic Dilatation Of The Right Atrium
Abnormal cardiac ventricular function, Syncope, Paroxysmal atrial fibrillation, Reduced ejection ... ORPHA:1677
Maternally-Inherited Diabetes And Deafness
Hypertrophic cardiomyopathy, Hypertension, Abnormal circulating lipid concentration, Sensorineura... ORPHA:225
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Glucose intolerance, Impai... OMIM:147630
Polyendocrine-Polyneuropathy Syndrome
Progressive hearing impairment, Central hypothyroidism, Hypoglycemia, Type II diabetes mellitus, ... ORPHA:453533
Arnold-Chiari Malformation Type I
Functional abnormality of the inner ear, Cranial nerve compression, Vertigo, Adult onset sensorin... ORPHA:268882
Long Qt Syndrome 1
Syncope, Prolonged QT interval, Torsade de pointes, Prolonged QTc interval, Sudden cardiac death,... OMIM:192500
Mcleod Syndrome
Dilated cardiomyopathy, Cardiomyopathy, Atrial fibrillation, Elevated circulating creatine kinase... OMIM:300842
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure OMIM:605676
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... ORPHA:79644
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Palpitations, Tachycardia, Hypokalemia OMIM:188580
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Restrictive cardiomyopathy, Congestive heart failure, Ventricular arrhythmia OMIM:613424
Long Qt Syndrome 3
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:603830
Long Qt Syndrome 2
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:613688
Long Qt Syndrome 6
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:613693
Long Qt Syndrome 5
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:613695
Spastic Paraplegia-Nephritis-Deafness Syndrome
Sensorineural hearing impairment, Hypertension ORPHA:2820
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cerebral hemorrhage, Conductive hearing impairment, Paroxysmal vertigo, Hypercalcemia, Palpitatio... ORPHA:276621
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Hypertrophic cardiomyopathy, Optic atrophy, Ventricular tachycardia, Elevated circulating creatin... OMIM:616878
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Hypertension, Congestive heart failure, Bilateral sensorineural hearing impairment, Wolff-Parkins... OMIM:540000
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Atrial fibrillation, Elevated circulating creatine kinase concentration, T... OMIM:613327
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Optic disc pallor, Tachycardia, Cerebral atrophy, Interictal EEG abnormality ORPHA:79264
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Palpitations, Tachycardia, Hypokalemia OMIM:613239
Combined Oxidative Phosphorylation Deficiency 15
Tremor, Optic atrophy, Wolff-Parkinson-White syndrome OMIM:614947
Infant Acute Respiratory Distress Syndrome
Cardiac arrest, Tachycardia, Bradycardia, Hypotension ORPHA:70587
Brugada Syndrome 8
Ventricular tachycardia, ST segment elevation, Right bundle branch block OMIM:613123
Dystonia 23
Head tremor, Cerebellar atrophy, Arrhythmia, Cerebral cortical atrophy OMIM:614860
Mitochondrial Complex I Deficiency, Nuclear Type 37
Cerebellar atrophy, Opisthotonus, Pulmonary arterial hypertension, Bradycardia, Corpus callosum a... OMIM:619272
Wolfram-Like Syndrome
Optic atrophy, Congenital sensorineural hearing impairment, Glucose intolerance, Abnormality of t... ORPHA:411590
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure, Mitral regurgitation OMIM:611878
Holt-Oram Syndrome
First degree atrioventricular block, Atrioventricular block, Paroxysmal atrial fibrillation ORPHA:392
Car T Cell Therapy-Associated Cytokine Release Syndrome
Reduced ejection fraction, Elevated circulating creatinine concentration, Tachycardia, Heart bloc... ORPHA:542323
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Left ventricular syst... ORPHA:206559
Coronary Arterial Fistula
Syncope, Systolic heart murmur, Continuous heart murmur, Palpitations, Elevated jugular venous pr... ORPHA:2041
Refsum Disease
Sensorineural hearing impairment, Cardiomyopathy, Heart block ORPHA:773
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Abnormal atrioventricular conduction, Cardiomyopathy, Hearing impairment ORPHA:329336
Cardiomyopathy, Familial Hypertrophic, 8
Hypertrophic cardiomyopathy, Palpitations, Restrictive cardiomyopathy, Cardiac arrest, Congestive... OMIM:608751
Drug-Induced Autoimmune Hemolytic Anemia
Congestive heart failure, Tachycardia, Increased total bilirubin ORPHA:90037
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Gray matter heterotopia, Polymicrogyria, Bradycardia OMIM:617397
Ethylene Glycol Poisoning
Shock, Hypertension, Hyperkalemia, Prolonged QT interval, Atrial fibrillation, Facial palsy, Tach... ORPHA:31826
Rigid Spine Syndrome
Cardiac conduction abnormality ORPHA:97244
Pediatric-Onset Graves Disease
Hypertension, Atrial fibrillation, Palpitations, Tremor, Congestive heart failure, Sinus tachycardia ORPHA:525731
Pheochromocytoma--Islet Cell Tumor Syndrome
Episodic hypertension, Cerebral hemorrhage, Hypercalcemia, Tachycardia, Congestive heart failure,... OMIM:171420
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypertension, Cardiomyopathy, Hyperuricemia, Sensorineural hearing impairment, Arrhythmia ORPHA:3222
Cataract-Ataxia-Deafness Syndrome
Sensorineural hearing impairment, Adult onset sensorineural hearing impairment, Decreased nerve c... ORPHA:1368
Fixed Subaortic Stenosis
Syncope, Mitral regurgitation, Systolic heart murmur, Palpitations, Aortic regurgitation, Pulmoni... ORPHA:3092
Ravine Syndrome
Failure to thrive, Atrophy/Degeneration affecting the brainstem, Decreased body weight, Abnormal ... ORPHA:99852
Combined Oxidative Phosphorylation Deficiency 36
Sensorineural hearing impairment, Failure to thrive OMIM:617950
Autosomal Dominant Progressive External Ophthalmoplegia
Dilated cardiomyopathy, Cerebellar atrophy, Reduced ejection fraction, Ventricular arrhythmia, At... ORPHA:254892
Combined Oxidative Phosphorylation Defect Type 39
Optic disc pallor, Atrophy/Degeneration affecting the brainstem, Decreased nerve conduction veloc... ORPHA:565624
Fabry Disease
Hypertrophic cardiomyopathy, Optic atrophy, Hypertension, Mitral regurgitation, Hyperlipidemia, A... ORPHA:324
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Onion bulb formation, Optic atrophy, Hearing impairment, Sensorineural hearing impairment, Segmen... OMIM:311070
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Snakebite Envenomation
Hyponatremia, Intracranial hemorrhage, Epistaxis, Tachycardia, Cerebral ischemia, Cardiogenic sho... ORPHA:449285
Brugada Syndrome 7
Atrial flutter, ST segment elevation OMIM:613120
Long Qt Syndrome 12
Syncope, Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation OMIM:612955
Short Qt Syndrome 3
Palpitations, Shortened QT interval, Tachycardia OMIM:609622
Glycogen Storage Disease Ii
Elevated circulating creatine kinase concentration, Wolff-Parkinson-White syndrome, Shortened PR ... OMIM:232300
Hereditary Pulmonary Alveolar Proteinosis
Elevated carcinoembryonic antigen level, Tachycardia, Abnormal circulating protein concentration ORPHA:264675
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Sensorineural hearing impairment, Cerebellar atrophy, Abnormal left ventricular function, Arrhythmia OMIM:618098
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Elevated circulating creatine kinase concentration, Right bundle branch block OMIM:613158
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Mitral regurgitation, Ventricular arrhythmia OMIM:615916
Muscular Dystrophy, Progressive Pectorodorsal
Elevated circulating creatine kinase concentration, Arrhythmia OMIM:310095
Myotonic Dystrophy 2
Palpitations, Tachycardia, Elevated circulating creatine kinase concentration OMIM:602668
Homozygous 11P15-P14 Deletion Syndrome
Congenital sensorineural hearing impairment, Hypoglycemia, Hyperinsulinemia, Failure to thrive OMIM:606528
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Low-set ears, Bradycardia, Tachycardia OMIM:614653
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin OMIM:609438
Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Increased hepatic glycogen content,... ORPHA:263455
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Left ventricular noncompaction cardiomyopathy, Torsade de pointes, Aborted sudden cardiac death, ... OMIM:115000
Glycogen Storage Disease Of Heart, Lethal Congenital
Bradycardia, Cardiomyopathy, Congestive heart failure, Shortened PR interval, Hypotension OMIM:261740
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Increased total bilirubin ORPHA:90036
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Absent brainstem auditory responses, Cardiomyopathy, S... ORPHA:1215
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Dilated cardiomyopathy, Syncope, Tachycardia OMIM:615821
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Insulin resistance, Polycystic ovaries, Pancreatitis, Hepatic steatosis, Diabetes m... ORPHA:79084
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Papilledema, Bradycardia, Elevated circulating creatine kinase conce... OMIM:618775
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Arrhythmia, Decreased nerve conduction velocity ORPHA:99944
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Ventricular tachycardia, Hyperammonemia, Elevated circulating creatine ki... OMIM:600649
Hereditary Pheochromocytoma-Paraganglioma
Cerebral hemorrhage, Conductive hearing impairment, Paroxysmal vertigo, Hypercalcemia, Palpitatio... ORPHA:29072
Conductive Deafness-Malformed External Ear Syndrome
Conductive hearing impairment, Overfolded helix, Abnormality of the pinna, Sensorineural hearing ... ORPHA:3216
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Sensorineural hearing impairment, Facial palsy OMIM:609283
Oculopharyngodistal Myopathy 1
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concent... OMIM:164310
X-Linked Spinocerebellar Ataxia Type 3
Sensorineural hearing impairment, Optic atrophy ORPHA:85297
Brugada Syndrome 5
Ventricular fibrillation, ST segment elevation, Bundle branch block OMIM:612838
Infantile Refsum Disease
Optic atrophy, Facial palsy, Cardiomyopathy, Hearing impairment, Sensorineural hearing impairment... ORPHA:772
Retinitis Pigmentosa
Conductive hearing impairment, Optic atrophy, Type II diabetes mellitus, Hypogonadism, Abnormal t... ORPHA:791
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Hypertrophic cardiomyopathy, Highly elevated creatine kinase, Tachycardia, Elevated circulating c... ORPHA:368
Mercury Poisoning
Hypertension, Hypokalemia, Tachycardia, Tremor, Hypotension ORPHA:330021
Hyperoxaluria, Primary, Type I
Optic atrophy, Optic neuropathy, Hyperoxaluria, Atrioventricular block, Raynaud phenomenon, Inter... OMIM:259900
Obesity Due To Prohormone Convertase I Deficiency
Central adrenal insufficiency, Failure to thrive, Decreased response to growth hormone stimulatio... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Central adrenal insufficiency, Failure to thrive, Decreased response to growth hormone stimulatio... ORPHA:71526
Eisenmenger Syndrome
Right ventricular failure, Syncope, Left-to-right shunt, Ventricular arrhythmia, Elevated circula... ORPHA:97214
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Elevated circulating creatine kinase concentration, Cerebellar atrophy, Right bundle branch block OMIM:616479
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilated cardiomyopathy, Cardiac arrest, Ventricular tachycardia, Ventricular fibrillation OMIM:300952
Naxos Disease
Dilated cardiomyopathy, Syncope, Paroxysmal ventricular tachycardia, Premature ventricular contra... OMIM:601214
Tularemia
Otitis media, Tachycardia ORPHA:3392
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia ORPHA:226313
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Atrioventricular block, Arrhythmia, Pachygyria ORPHA:93317
Neuroleptic Malignant Syndrome
Hyperkalemia, Hypertension, Hyperphosphatemia, Hyponatremia, Hypernatremia, Elevated circulating ... ORPHA:94093
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Mitral regurgitation, Overfolded helix, Macrotia, Tricuspid regurgitation, Atrial flutter, Conges... ORPHA:324410
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal OMIM:618013
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Facial palsy, Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality OMIM:617519
Paragangliomas 4
Palpitations, Pulsatile tinnitus, Hypertension associated with pheochromocytoma, Tachycardia OMIM:115310
Galactokinase Deficiency
Hepatomegaly, Hypergalactosemia, Hypoglycemia, Small for gestational age, Failure to thrive, Sens... ORPHA:79237
Loeffler Endocarditis
Pericarditis, Mitral regurgitation, Palpitations, Aortic regurgitation, Restrictive cardiomyopath... ORPHA:75566
Thyrotoxic Periodic Paralysis
Hyperkalemia, Prolonged QT interval, Episodic hypokalemia, Palpitations, Mildly elevated creatine... ORPHA:79102
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Aplasia/Hypoplasia of the pancreas, Low-set ears, Optic nerve hypoplasia, Neonatal insulin-depend... ORPHA:65288
Congenitally Corrected Transposition Of The Great Arteries
Third degree atrioventricular block, Cardiac conduction abnormality, Abnormal atrioventricular co... ORPHA:216694
Steinert Myotonic Dystrophy
Dilated cardiomyopathy, Atrial fibrillation, Cardiac conduction abnormality, Facial diplegia, Sup... ORPHA:273
Stiff-Person Syndrome
Exaggerated startle response, Hypertension, Opisthotonus, Tachycardia OMIM:184850
Adenine Phosphoribosyltransferase Deficiency
Hypertension, Atrial fibrillation ORPHA:976
Familial Isolated Dilated Cardiomyopathy
Sensorineural hearing impairment, Dilated cardiomyopathy, Elevated circulating creatine kinase co... ORPHA:154
Cardiomyopathy, Familial Hypertrophic, 1
Arrhythmia, Congestive heart failure, Asymmetric septal hypertrophy OMIM:192600
Perlman Syndrome
Hepatomegaly, Posteriorly rotated ears, Abnormal pancreas morphology, Low-set ears, Cryptorchidis... ORPHA:2849
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease
Pancreatic islet-cell hyperplasia, Large for gestational age OMIM:601165
Donohue Syndrome
Fasting hypoglycemia, Hepatic fibrosis, Hyperglycemia, Macrotia, Precocious puberty, Pancreatic i... OMIM:246200
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Elevated circulating creatine kinase concentration, Arrhythmia, Cardiomyopathy OMIM:612999
Relapsing Fever
Elevated circulating creatinine concentration, Epistaxis, Tachycardia, Increased total bilirubin,... ORPHA:91547
Brugada Syndrome 6
Cardiac arrest, ST segment elevation, Ventricular fibrillation OMIM:613119
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia, Ventricular arrhythmia OMIM:141000
Middle Ear Neuroendocrine Tumor
Neuroendocrine neoplasm, Abnormality of the auditory canal, Facial palsy, Abnormality of the tymp... ORPHA:100084
Partial Atrioventricular Septal Defect
Syncope, Mitral regurgitation, Angina pectoris, Palpitations, Heart murmur, Transient ischemic at... ORPHA:1330
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Abnormality of neuronal migration, Decreased plasma free carnitine, Hyperlipidemia, Elevated circ... ORPHA:228308
Double Outlet Right Ventricle
Abnormality of cartilage of external ear, Tachycardia, Pulmonic stenosis, Hypocalcemia, Heart murmur ORPHA:3426
Muscular Dystrophy, Cardiac Type
Elevated circulating creatine kinase concentration, Abnormal EKG, Cardiomyopathy OMIM:309930
Cardiomyopathy, Familial Hypertrophic, 25
Dilated cardiomyopathy, Wolff-Parkinson-White syndrome OMIM:607487
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of somatosenso... ORPHA:320401
Necrotizing Enterocolitis
Shock, Hyponatremia, Bradycardia, Hypotension ORPHA:391673
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrioventricular block, Papilledema, Hypertension ORPHA:371428
Combined Oxidative Phosphorylation Deficiency 38
Hypertrophic cardiomyopathy, Low-set ears, Wolff-Parkinson-White syndrome OMIM:618378
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal QRS complex, Abnormality of blood circulation, Tachycardia, Congestive heart failure, Ca... ORPHA:860
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cerebellar atrophy, Type II diabetes mellitus, Polycystic ovaries, Sensorineural hearing impairme... ORPHA:3085
Serotonin Syndrome
Hypertension, Abnormality of the autonomic nervous system, Tachycardia, Tremor, Hypotension ORPHA:43116
Superficial Siderosis
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Vertigo, Atrophy of the spinal ... ORPHA:247245
Congenital Fibrinogen Deficiency
Internal hemorrhage, Opisthotonus, Tachycardia ORPHA:335
Autoimmune Hemolytic Anemia, Warm Type
Congestive heart failure, Tachycardia ORPHA:90033
16P12.1P12.3 Triplication Syndrome
Large earlobe, Low-set ears, Tachycardia ORPHA:485405
Andersen-Tawil Syndrome
Dilated cardiomyopathy, Syncope, Prominent U wave, Bidirectional ventricular ectopy, Premature ve... ORPHA:37553
Bdv Syndrome
Central hypothyroidism, Type II diabetes mellitus, Decreased circulating free T4 level, Hypogonad... OMIM:619326
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Sinus bradycardia OMIM:619482
Absence Of The Pulmonary Artery
Reduced ejection fraction, Systolic heart murmur, Atrial fibrillation, Pulmonary arterial hyperte... ORPHA:980
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Deafness, X-Linked 2
Conductive hearing impairment, Dilatated internal auditory canal, Congenital sensorineural hearin... OMIM:304400
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentration, Low-output conge... ORPHA:308552
Cap Myopathy
Facial palsy, Reduced systolic function, Sinus tachycardia ORPHA:171881
Adult-Onset Cervical Dystonia, Dyt23 Type
Cerebellar atrophy, Limb tremor, Head tremor, Supraventricular arrhythmia, Cerebral cortical atrophy ORPHA:420492
Sheehan Syndrome
Hyponatremia, Orthostatic hypotension, Palpitations, Vertigo, Bradycardia, Sensorineural hearing ... ORPHA:91355
Pheochromocytoma
Episodic hypertension, Cerebral hemorrhage, Hypercalcemia, Tachycardia, Congestive heart failure,... OMIM:171300
Rhizomelic Chondrodysplasia Punctata, Type 5
Sinus tachycardia OMIM:616716
Deafness, Dystonia, And Cerebral Hypomyelination
Optic atrophy, Cerebellar atrophy, Failure to thrive, Sensorineural hearing impairment, Cerebral ... OMIM:300475
Deafness, Autosomal Dominant 50
Progressive hearing impairment, Tinnitus, Sensorineural hearing impairment, Progressive sensorine... OMIM:613074
Cirrhotic Cardiomyopathy
Global systolic dysfunction, Reduced ejection fraction, Ventricular arrhythmia, Prolonged QT inte... ORPHA:57777
Porphyria Variegata
Hypertension, Hyponatremia, Abnormal autonomic nervous system physiology, Tachycardia, Abnormal c... ORPHA:79473
Refsum Disease, Classic
Cardiomyopathy, Sensorineural hearing impairment, Congestive heart failure, Elevated levels of ph... OMIM:266500
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Abnormality of endocrine pancreas physiology, Aplasia/Hypoplasia of the pancreas, Abnormality of ... ORPHA:93111
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Elevated circulating creatine kinase concentration, Bilateral facial palsy, Right bundle branch b... ORPHA:254361
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Abnormal left ventricular... OMIM:615373
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Solitary Fibrous Tumor/Hemangiopericytoma
Hypoglycemia, Weight loss, Abnormality of the peritoneum, Neoplasm of the liver, Recurrent hypogl... ORPHA:2126
Ventricular Fibrillation, Paroxysmal Familial, 2
Sudden cardiac death, Premature ventricular contraction, Ventricular fibrillation OMIM:612956
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Sensorineural hearing impairment, Cachexia ORPHA:1144
Pendred Syndrome
Congenital sensorineural hearing impairment, Vestibular dysfunction, Cochlear malformation OMIM:274600
Encephalitis Lethargica
Tremor, Bradycardia ORPHA:83600
Scorpion Envenomation
Myocarditis, Prominent U wave, Hypertension, Premature ventricular contraction, Hypokalemia, Card... ORPHA:466677
Lipodystrophy, Familial Partial, Type 7
Insulin resistance, Orthostatic hypotension, Glucose intolerance, Impaired glucose tolerance, Pan... OMIM:606721
Brugada Syndrome 9
Palpitations, Presyncope, ST segment elevation OMIM:616399
Hyperthyroidism, Nonautoimmune
Tachycardia OMIM:609152
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2
Effort-induced polymorphic ventricular tachycardia, Right ventricular cardiomyopathy, Ventricular... OMIM:600996
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Sudden cardiac death, Right ventricular cardiomyopathy, Premature ventricular contraction OMIM:604401
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular tachycardia, Cardiomyopathy, Hyperammonemia, Elevated creatine kinase after exercise,... ORPHA:159
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... ORPHA:411593
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Conductive hearing impairment, Posteriorly rotated ears, Pulmonic stenosis, Low-set ears, Paroxys... OMIM:617877
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment OMIM:125250
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Prolonged QT interval, Hypocalcemic seizures, Ventricular arrhythmia, Hypoca... ORPHA:36913
Mucopolysaccharidosis Type 3
Central nervous system degeneration, Conductive hearing impairment, Optic atrophy, Reduced ejecti... ORPHA:581
Heart Block, Congenital
Mitral regurgitation, Atrioventricular block, Cardiomyopathy, Absent atrioventricular node, Atria... OMIM:234700
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia OMIM:229700
Leopard Syndrome 1
Hypertrophic cardiomyopathy, Third degree atrioventricular block, Posteriorly rotated ears, Bundl... OMIM:151100
Optic Atrophy 7 With Or Without Auditory Neuropathy
Sensorineural hearing impairment, Optic atrophy, Optic disc pallor, Hypertrophic cardiomyopathy OMIM:612989
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sensorineural hearing impairment, Optic atrophy, Arrhythmia, Cardiomyopathy OMIM:249270
Hypothyroidism Due To Tsh Receptor Mutations
Increased circulating thyroglobulin level, Bradycardia, Neonatal hyperbilirubinemia ORPHA:90673
Cholera
Hyponatremia, Hypovolemic shock, Hypokalemia, Tachycardia, Hypocalcemia, Hypotension, Abnormal bl... ORPHA:173
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Hypertension, Orthostatic hypotension, Elevated circulating creatinine concentration, Tachycardia... OMIM:223900
Benign Schwannoma
Abnormal cranial nerve morphology, Vestibular Schwannoma, Vertigo, Facial palsy, Abnormality of p... ORPHA:252164
Atrioventricular Septal Defect 3
Hypertension, Pulmonary arterial hypertension, Congestive heart failure, First degree atrioventri... OMIM:600309
Obesity Due To Congenital Leptin Deficiency
Orthostatic hypotension due to autonomic dysfunction, Insulin-resistant diabetes mellitus, Pituit... ORPHA:66628
Gitelman Syndrome
Prolonged QT interval, Hypokalemia, Palpitations, Ventricular tachycardia, Vertigo, Hypomagnesemi... OMIM:263800
20P12.3 Microdeletion Syndrome
Wolff-Parkinson-White syndrome, Thickened helices, Microtia ORPHA:261295
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Facial palsy, Axona... OMIM:601596
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Bradycardia, Paroxysmal supraventricular tachycardia OMIM:601375
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Insulin-resistant diabetes mellitus at puberty, Polycystic ovaries, Hepatic ste... ORPHA:280356
Cocaine Intoxication
Cerebral hemorrhage, Hypertension, Prolonged QT interval, Ventricular arrhythmia, Elevated circul... ORPHA:90068
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Supraventricular arrhythmia, Raynaud phenomenon, Retinal hemorrhage OMIM:611773
Bangstad Syndrome
Increased circulating cortisol level, Polycystic ovaries, Abnormal testis morphology, Abnormality... ORPHA:1227
Ogden Syndrome
Premature ventricular contraction, Ventricular tachycardia, Torsade de pointes, Supraventricular ... OMIM:300855
Malignant Hyperthermia Of Anesthesia
Premature ventricular contraction, Hyperkalemia, Ventricular tachycardia, Supraventricular tachyc... ORPHA:423
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Syncope, Ventricular arrhythmia, Palpitations, Sudden cardiac death, Right ventricular cardiomyop... OMIM:609040
African Iron Overload